Canonical Allele Identifier: CA2692217845

Gene: POMT1

Linked Data

• gnomAD v4: 9-131513287-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131513288dup , CM000671.2:g.131513288dup	GRCh38
NC_000009.11:g.134388675dup , CM000671.1:g.134388675dup	GRCh37
NC_000009.10:g.133378496dup	NCBI36
NG_008896.1:g.15387dup
NG_008896.2:g.15387dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.970dup	ENSP00000343034.7:p.Met324AsnfsTer17
ENST00000404875.7:n.1672dup
ENST00000423007.6:c.1189dup	ENSP00000404119.2:p.Met397AsnfsTer17
ENST00000677295.2:c.*1476dup	ENSP00000504346.2:n.*1476dup
ENST00000678264.2:c.*1315dup	ENSP00000503157.2:n.*1315dup
ENST00000682070.1:n.1597dup
ENST00000682813.1:n.1397dup
ENST00000683392.1:n.3879dup
ENST00000683712.1:n.1537dup
ENST00000683900.1:n.3032dup
ENST00000684062.1:n.1798dup
ENST00000684579.1:n.2978dup
ENST00000341012.12:c.970dup	ENSP00000343034.7:p.Met324AsnfsTer17
ENST00000372220.5:c.1dup	ENSP00000361294.5:p.Met1AsnfsTer17
ENST00000372228.9:c.1198dup	ENSP00000361302.3:p.Met400AsnfsTer17
ENST00000402686.8:c.1132dup MANE Select	ENSP00000385797.4:p.Met378AsnfsTer17
ENST00000676640.1:c.1132dup	ENSP00000503281.1:p.Met378AsnfsTer17
ENST00000676803.1:c.307dup	ENSP00000503093.1:p.Met103AsnfsTer17
ENST00000676835.1:c.*347dup	ENSP00000502911.1:n.*347dup
ENST00000677029.1:c.676dup	ENSP00000502936.1:p.Met226AsnfsTer17
ENST00000677099.1:c.*842dup	ENSP00000504553.1:n.*842dup
ENST00000677216.1:c.781dup	ENSP00000503772.1:p.Met261AsnfsTer17
ENST00000677293.1:c.307dup	ENSP00000504278.1:p.Met103AsnfsTer17
ENST00000677295.1:c.*509dup	ENSP00000504346.1:n.*509dup
ENST00000677444.1:c.938dup
ENST00000677586.1:n.613dup
ENST00000677626.1:c.824+1821dup	ENSP00000503552.1:n.824+1821dup
ENST00000677677.1:n.1092dup
ENST00000677853.1:c.*140dup	ENSP00000503488.1:n.*140dup
ENST00000677944.1:c.394dup
ENST00000678264.1:c.*509dup	ENSP00000503157.1:n.*509dup
ENST00000678303.1:c.1042dup	ENSP00000503696.1:p.Met348AsnfsTer17
ENST00000678366.1:c.*1381dup	ENSP00000504353.1:n.*1381dup
ENST00000678546.1:c.*1077dup	ENSP00000503062.1:n.*1077dup
ENST00000678548.1:c.*1204dup	ENSP00000503934.1:n.*1204dup
ENST00000678626.1:n.829dup
ENST00000678733.1:c.256+1152dup
ENST00000678739.1:c.*1458dup	ENSP00000503806.1:n.*1458dup
ENST00000678795.1:n.219dup
ENST00000678833.1:c.*579dup	ENSP00000503893.1:n.*579dup
ENST00000678942.1:c.312dup	ENSP00000504690.1:n.312dup
ENST00000679023.1:c.970dup	ENSP00000503718.1:p.Met324AsnfsTer17
ENST00000679073.1:c.510dup	ENSP00000504356.1:n.510dup
ENST00000679076.1:c.751dup
ENST00000679111.1:c.1132dup	ENSP00000504257.1:p.Met378AsnfsTer17
ENST00000679189.1:c.781dup	ENSP00000503356.1:p.Met261AsnfsTer17
ENST00000341012.11:c.970dup	ENSP00000343034.7:p.Met324AsnfsTer17
ENST00000372228.7:c.1198dup	ENSP00000361302.3:p.Met400AsnfsTer17
ENST00000402686.7:c.1132dup	ENSP00000385797.3:p.Met378AsnfsTer17
ENST00000404875.6:c.781dup	ENSP00000384531.2:p.Met261AsnfsTer17
ENST00000423007.5:c.1132dup	ENSP00000404119.1:p.Met378AsnfsTer17
ENST00000441334.5:c.847dup	ENSP00000395060.1:p.Met283AsnfsTer?
ENST00000462375.5:n.958dup
ENST00000485278.5:n.1687dup
NM_001077365.1:c.1132dup	NP_001070833.1:p.Met378AsnfsTer17
NM_001077366.1:c.970dup	NP_001070834.1:p.Met324AsnfsTer17
NM_001136113.1:c.1132dup	NP_001129585.1:p.Met378AsnfsTer17
NM_001136114.1:c.781dup	NP_001129586.1:p.Met261AsnfsTer17
NM_007171.3:c.1198dup	NP_009102.3:p.Met400AsnfsTer17
XM_005272156.1:c.1198dup	XP_005272213.1:p.Met400AsnfsTer17
XM_005272158.1:c.1036dup	XP_005272215.1:p.Met346AsnfsTer17
XM_005272159.1:c.847dup	XP_005272216.1:p.Met283AsnfsTer17
XM_005272162.1:c.1dup	XP_005272219.1:p.Met1AsnfsTer17
XM_006716932.1:c.847dup	XP_006716995.1:p.Met283AsnfsTer17
XM_011518140.1:c.1051dup	XP_011516442.1:p.Met351AsnfsTer17
XM_011518141.1:c.985dup	XP_011516443.1:p.Met329AsnfsTer17
XM_011518142.1:c.889dup	XP_011516444.1:p.Met297AsnfsTer17
XM_011518143.1:c.883dup	XP_011516445.1:p.Met295AsnfsTer17
XM_011518144.1:c.1198dup	XP_011516446.1:p.Met400AsnfsTer17
XM_011518145.1:c.742dup	XP_011516447.1:p.Met248AsnfsTer17
XM_011518146.1:c.883dup	XP_011516448.1:p.Met295AsnfsTer17
XR_929703.1:n.1374dup
NM_001353193.1:c.1198dup	NP_001340122.1:p.Met400AsnfsTer17
NM_001353194.1:c.970dup	NP_001340123.1:p.Met324AsnfsTer17
NM_001353195.1:c.781dup	NP_001340124.1:p.Met261AsnfsTer17
NM_001353196.1:c.1042dup	NP_001340125.1:p.Met348AsnfsTer17
NM_001353197.1:c.1036dup	NP_001340126.1:p.Met346AsnfsTer17
NM_001353198.1:c.1036dup	NP_001340127.1:p.Met346AsnfsTer17
NM_001353199.1:c.847dup	NP_001340128.1:p.Met283AsnfsTer17
NM_001353200.1:c.676dup	NP_001340129.1:p.Met226AsnfsTer17
NR_148391.1:n.1182dup
NR_148392.1:n.1400dup
NR_148393.1:n.1182dup
NR_148394.1:n.1075dup
NR_148395.1:n.1334dup
NR_148396.1:n.968dup
NR_148397.1:n.1232dup
NR_148398.1:n.1187dup
NR_148399.1:n.1574dup
NR_148400.1:n.1173dup
XM_005272162.3:c.1dup	XP_005272219.1:p.Met1AsnfsTer17
XM_006716932.2:c.847dup	XP_006716995.1:p.Met283AsnfsTer17
XM_011518140.2:c.1051dup	XP_011516442.1:p.Met351AsnfsTer17
XM_011518141.2:c.985dup	XP_011516443.1:p.Met329AsnfsTer17
XM_011518142.2:c.889dup	XP_011516444.1:p.Met297AsnfsTer17
XM_011518143.2:c.883dup	XP_011516445.1:p.Met295AsnfsTer17
XM_011518145.2:c.742dup	XP_011516447.1:p.Met248AsnfsTer17
XM_017014205.2:c.1dup	XP_016869694.1:p.Met1AsnfsTer17
XM_024447380.1:c.1dup	XP_024303148.1:p.Met1AsnfsTer17
XM_024447381.1:c.307dup	XP_024303149.1:p.Met103AsnfsTer17
XM_024447382.1:c.1dup	XP_024303150.1:p.Met1AsnfsTer17
XR_001746160.2:n.1302dup
XR_001746162.2:n.1368dup
XR_001746164.1:n.1085dup
XR_001746166.2:n.1519dup
NM_001077365.2:c.1132dup MANE Select	NP_001070833.1:p.Met378AsnfsTer17
NM_001077366.2:c.970dup	NP_001070834.1:p.Met324AsnfsTer17
NM_001136113.2:c.1132dup	NP_001129585.1:p.Met378AsnfsTer17
NM_001136114.2:c.781dup	NP_001129586.1:p.Met261AsnfsTer17
NM_001353193.2:c.1198dup	NP_001340122.2:p.Met400AsnfsTer17
NM_001353194.2:c.970dup	NP_001340123.1:p.Met324AsnfsTer17
NM_001353195.2:c.781dup	NP_001340124.1:p.Met261AsnfsTer17
NM_001353196.2:c.1042dup	NP_001340125.1:p.Met348AsnfsTer17
NM_001353197.2:c.1036dup	NP_001340126.2:p.Met346AsnfsTer17
NM_001353198.2:c.1036dup	NP_001340127.2:p.Met346AsnfsTer17
NM_001353199.2:c.847dup	NP_001340128.2:p.Met283AsnfsTer17
NM_001353200.2:c.676dup	NP_001340129.1:p.Met226AsnfsTer17
NM_001374689.1:c.1120dup	NP_001361618.1:p.Met374AsnfsTer17
NM_001374690.1:c.1132dup	NP_001361619.1:p.Met378AsnfsTer17
NM_001374691.1:c.781dup	NP_001361620.1:p.Met261AsnfsTer17
NM_001374692.1:c.781dup	NP_001361621.1:p.Met261AsnfsTer17
NM_001374693.1:c.824+1821dup	NP_001361622.1:n.824+1821dup
NM_001374695.1:c.742dup	NP_001361624.1:p.Met248AsnfsTer17
NM_007171.4:c.1198dup	NP_009102.4:p.Met400AsnfsTer17
NR_148391.2:n.1166dup
NR_148392.2:n.1384dup
NR_148393.2:n.1166dup
NR_148394.2:n.1059dup
NR_148395.2:n.1318dup
NR_148396.2:n.952dup
NR_148397.2:n.1216dup
NR_148398.2:n.1171dup
NR_148399.2:n.1558dup
NR_148400.2:n.1157dup