Canonical Allele Identifier: CA375309069

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134388673A>T (hg19) ; chr9:g.131513286A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131513286A>T , CM000671.2:g.131513286A>T	GRCh38
NC_000009.11:g.134388673A>T , CM000671.1:g.134388673A>T	GRCh37
NC_000009.10:g.133378494A>T	NCBI36
NG_008896.1:g.15385A>T
NG_008896.2:g.15385A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.968A>T	ENSP00000343034.7:p.Asp323Val
ENST00000404875.7:n.1670A>T
ENST00000423007.6:c.1187A>T	ENSP00000404119.2:p.Asp396Val
ENST00000677295.2:c.*1474A>T	ENSP00000504346.2:n.*1474A>T
ENST00000678264.2:c.*1313A>T	ENSP00000503157.2:n.*1313A>T
ENST00000682070.1:n.1595A>T
ENST00000682813.1:n.1395A>T
ENST00000683392.1:n.3877A>T
ENST00000683712.1:n.1535A>T
ENST00000683900.1:n.3030A>T
ENST00000684062.1:n.1796A>T
ENST00000684579.1:n.2976A>T
ENST00000341012.12:c.968A>T	ENSP00000343034.7:p.Asp323Val
ENST00000372220.5:c.-2A>T	ENSP00000361294.5:n.-2A>T
ENST00000372228.9:c.1196A>T	ENSP00000361302.3:p.Asp399Val
ENST00000402686.8:c.1130A>T MANE Select	ENSP00000385797.4:p.Asp377Val
ENST00000676640.1:c.1130A>T	ENSP00000503281.1:p.Asp377Val
ENST00000676803.1:c.305A>T	ENSP00000503093.1:p.Asp102Val
ENST00000676835.1:c.*345A>T	ENSP00000502911.1:n.*345A>T
ENST00000677029.1:c.674A>T	ENSP00000502936.1:p.Asp225Val
ENST00000677099.1:c.*840A>T	ENSP00000504553.1:n.*840A>T
ENST00000677216.1:c.779A>T	ENSP00000503772.1:p.Asp260Val
ENST00000677293.1:c.305A>T	ENSP00000504278.1:p.Asp102Val
ENST00000677295.1:c.*507A>T	ENSP00000504346.1:n.*507A>T
ENST00000677444.1:c.936A>T
ENST00000677586.1:n.611A>T
ENST00000677626.1:c.824+1819A>T	ENSP00000503552.1:n.824+1819A>T
ENST00000677677.1:n.1090A>T
ENST00000677853.1:c.*138A>T	ENSP00000503488.1:n.*138A>T
ENST00000677944.1:c.392A>T
ENST00000678264.1:c.*507A>T	ENSP00000503157.1:n.*507A>T
ENST00000678303.1:c.1040A>T	ENSP00000503696.1:p.Asp347Val
ENST00000678366.1:c.*1379A>T	ENSP00000504353.1:n.*1379A>T
ENST00000678546.1:c.*1075A>T	ENSP00000503062.1:n.*1075A>T
ENST00000678548.1:c.*1202A>T	ENSP00000503934.1:n.*1202A>T
ENST00000678626.1:n.827A>T
ENST00000678733.1:c.256+1150A>T
ENST00000678739.1:c.*1456A>T	ENSP00000503806.1:n.*1456A>T
ENST00000678795.1:n.217A>T
ENST00000678833.1:c.*577A>T	ENSP00000503893.1:n.*577A>T
ENST00000678942.1:c.310A>T	ENSP00000504690.1:n.310A>T
ENST00000679023.1:c.968A>T	ENSP00000503718.1:p.Asp323Val
ENST00000679073.1:c.508A>T	ENSP00000504356.1:n.508A>T
ENST00000679076.1:c.749A>T
ENST00000679111.1:c.1130A>T	ENSP00000504257.1:p.Asp377Val
ENST00000679189.1:c.779A>T	ENSP00000503356.1:p.Asp260Val
ENST00000341012.11:c.968A>T	ENSP00000343034.7:p.Asp323Val
ENST00000372228.7:c.1196A>T	ENSP00000361302.3:p.Asp399Val
ENST00000402686.7:c.1130A>T	ENSP00000385797.3:p.Asp377Val
ENST00000404875.6:c.779A>T	ENSP00000384531.2:p.Asp260Val
ENST00000423007.5:c.1130A>T	ENSP00000404119.1:p.Asp377Val
ENST00000441334.5:c.845A>T	ENSP00000395060.1:p.Asp282Val
ENST00000462375.5:n.956A>T
ENST00000485278.5:n.1685A>T
NM_001077365.1:c.1130A>T	NP_001070833.1:p.Asp377Val
NM_001077366.1:c.968A>T	NP_001070834.1:p.Asp323Val
NM_001136113.1:c.1130A>T	NP_001129585.1:p.Asp377Val
NM_001136114.1:c.779A>T	NP_001129586.1:p.Asp260Val
NM_007171.3:c.1196A>T	NP_009102.3:p.Asp399Val
XM_005272156.1:c.1196A>T	XP_005272213.1:p.Asp399Val
XM_005272158.1:c.1034A>T	XP_005272215.1:p.Asp345Val
XM_005272159.1:c.845A>T	XP_005272216.1:p.Asp282Val
XM_005272162.1:c.-2A>T	XP_005272219.1:n.-2A>T
XM_006716932.1:c.845A>T	XP_006716995.1:p.Asp282Val
XM_011518140.1:c.1049A>T	XP_011516442.1:p.Asp350Val
XM_011518141.1:c.983A>T	XP_011516443.1:p.Asp328Val
XM_011518142.1:c.887A>T	XP_011516444.1:p.Asp296Val
XM_011518143.1:c.881A>T	XP_011516445.1:p.Asp294Val
XM_011518144.1:c.1196A>T	XP_011516446.1:p.Asp399Val
XM_011518145.1:c.740A>T	XP_011516447.1:p.Asp247Val
XM_011518146.1:c.881A>T	XP_011516448.1:p.Asp294Val
XR_929703.1:n.1372A>T
NM_001353193.1:c.1196A>T	NP_001340122.1:p.Asp399Val
NM_001353194.1:c.968A>T	NP_001340123.1:p.Asp323Val
NM_001353195.1:c.779A>T	NP_001340124.1:p.Asp260Val
NM_001353196.1:c.1040A>T	NP_001340125.1:p.Asp347Val
NM_001353197.1:c.1034A>T	NP_001340126.1:p.Asp345Val
NM_001353198.1:c.1034A>T	NP_001340127.1:p.Asp345Val
NM_001353199.1:c.845A>T	NP_001340128.1:p.Asp282Val
NM_001353200.1:c.674A>T	NP_001340129.1:p.Asp225Val
NR_148391.1:n.1180A>T
NR_148392.1:n.1398A>T
NR_148393.1:n.1180A>T
NR_148394.1:n.1073A>T
NR_148395.1:n.1332A>T
NR_148396.1:n.966A>T
NR_148397.1:n.1230A>T
NR_148398.1:n.1185A>T
NR_148399.1:n.1572A>T
NR_148400.1:n.1171A>T
XM_005272162.3:c.-2A>T	XP_005272219.1:n.-2A>T
XM_006716932.2:c.845A>T	XP_006716995.1:p.Asp282Val
XM_011518140.2:c.1049A>T	XP_011516442.1:p.Asp350Val
XM_011518141.2:c.983A>T	XP_011516443.1:p.Asp328Val
XM_011518142.2:c.887A>T	XP_011516444.1:p.Asp296Val
XM_011518143.2:c.881A>T	XP_011516445.1:p.Asp294Val
XM_011518145.2:c.740A>T	XP_011516447.1:p.Asp247Val
XM_017014205.2:c.-2A>T	XP_016869694.1:n.-2A>T
XM_024447380.1:c.-2A>T	XP_024303148.1:n.-2A>T
XM_024447381.1:c.305A>T	XP_024303149.1:p.Asp102Val
XM_024447382.1:c.-2A>T	XP_024303150.1:n.-2A>T
XR_001746160.2:n.1300A>T
XR_001746162.2:n.1366A>T
XR_001746164.1:n.1083A>T
XR_001746166.2:n.1517A>T
NM_001077365.2:c.1130A>T MANE Select	NP_001070833.1:p.Asp377Val
NM_001077366.2:c.968A>T	NP_001070834.1:p.Asp323Val
NM_001136113.2:c.1130A>T	NP_001129585.1:p.Asp377Val
NM_001136114.2:c.779A>T	NP_001129586.1:p.Asp260Val
NM_001353193.2:c.1196A>T	NP_001340122.2:p.Asp399Val
NM_001353194.2:c.968A>T	NP_001340123.1:p.Asp323Val
NM_001353195.2:c.779A>T	NP_001340124.1:p.Asp260Val
NM_001353196.2:c.1040A>T	NP_001340125.1:p.Asp347Val
NM_001353197.2:c.1034A>T	NP_001340126.2:p.Asp345Val
NM_001353198.2:c.1034A>T	NP_001340127.2:p.Asp345Val
NM_001353199.2:c.845A>T	NP_001340128.2:p.Asp282Val
NM_001353200.2:c.674A>T	NP_001340129.1:p.Asp225Val
NM_001374689.1:c.1118A>T	NP_001361618.1:p.Asp373Val
NM_001374690.1:c.1130A>T	NP_001361619.1:p.Asp377Val
NM_001374691.1:c.779A>T	NP_001361620.1:p.Asp260Val
NM_001374692.1:c.779A>T	NP_001361621.1:p.Asp260Val
NM_001374693.1:c.824+1819A>T	NP_001361622.1:n.824+1819A>T
NM_001374695.1:c.740A>T	NP_001361624.1:p.Asp247Val
NM_007171.4:c.1196A>T	NP_009102.4:p.Asp399Val
NR_148391.2:n.1164A>T
NR_148392.2:n.1382A>T
NR_148393.2:n.1164A>T
NR_148394.2:n.1057A>T
NR_148395.2:n.1316A>T
NR_148396.2:n.950A>T
NR_148397.2:n.1214A>T
NR_148398.2:n.1169A>T
NR_148399.2:n.1556A>T
NR_148400.2:n.1155A>T