Canonical Allele Identifier: CA375311580

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393922A>T (hg19) ; chr9:g.131518535A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518535A>T , CM000671.2:g.131518535A>T	GRCh38
NC_000009.11:g.134393922A>T , CM000671.1:g.134393922A>T	GRCh37
NC_000009.10:g.133383743A>T	NCBI36
NG_008896.1:g.20634A>T
NG_008896.2:g.20634A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1201A>T	ENSP00000343034.7:p.Lys401Ter
ENST00000404875.7:n.1903A>T
ENST00000423007.6:c.1420A>T	ENSP00000404119.2:p.Lys474Ter
ENST00000677295.2:c.*1707A>T	ENSP00000504346.2:n.*1707A>T
ENST00000678264.2:c.*1546A>T	ENSP00000503157.2:n.*1546A>T
ENST00000682070.1:n.1828A>T
ENST00000682535.1:n.135A>T
ENST00000682539.1:c.301A>T
ENST00000682813.1:n.1628A>T
ENST00000683110.1:n.91A>T
ENST00000683392.1:n.4110A>T
ENST00000683712.1:n.1768A>T
ENST00000683900.1:n.3263A>T
ENST00000684062.1:n.2029A>T
ENST00000684579.1:n.3209A>T
ENST00000684679.1:n.590A>T
ENST00000341012.12:c.1201A>T	ENSP00000343034.7:p.Lys401Ter
ENST00000372220.5:c.232A>T	ENSP00000361294.5:p.Lys78Ter
ENST00000372228.9:c.1429A>T	ENSP00000361302.3:p.Lys477Ter
ENST00000402686.8:c.1363A>T MANE Select	ENSP00000385797.4:p.Lys455Ter
ENST00000676640.1:c.1363A>T	ENSP00000503281.1:p.Lys455Ter
ENST00000676803.1:c.538A>T	ENSP00000503093.1:p.Lys180Ter
ENST00000676835.1:c.*578A>T	ENSP00000502911.1:n.*578A>T
ENST00000677029.1:c.907A>T	ENSP00000502936.1:p.Lys303Ter
ENST00000677099.1:c.*1073A>T	ENSP00000504553.1:n.*1073A>T
ENST00000677216.1:c.1012A>T	ENSP00000503772.1:p.Lys338Ter
ENST00000677221.1:n.388A>T
ENST00000677295.1:c.*740A>T	ENSP00000504346.1:n.*740A>T
ENST00000677444.1:c.1169A>T
ENST00000677586.1:n.844A>T
ENST00000677626.1:c.1012A>T	ENSP00000503552.1:p.Lys338Ter
ENST00000677677.1:n.1323A>T
ENST00000677853.1:c.*371A>T	ENSP00000503488.1:n.*371A>T
ENST00000677983.1:n.452A>T
ENST00000678202.1:n.383A>T
ENST00000678264.1:c.*740A>T	ENSP00000503157.1:n.*740A>T
ENST00000678303.1:c.1273A>T	ENSP00000503696.1:p.Lys425Ter
ENST00000678366.1:c.*1612A>T	ENSP00000504353.1:n.*1612A>T
ENST00000678546.1:c.*1308A>T	ENSP00000503062.1:n.*1308A>T
ENST00000678548.1:c.*1435A>T	ENSP00000503934.1:n.*1435A>T
ENST00000678626.1:n.1060A>T
ENST00000678733.1:c.444A>T
ENST00000678739.1:c.*1689A>T	ENSP00000503806.1:n.*1689A>T
ENST00000678795.1:n.450A>T
ENST00000678833.1:c.*810A>T	ENSP00000503893.1:n.*810A>T
ENST00000678942.1:c.543A>T	ENSP00000504690.1:n.543A>T
ENST00000679023.1:c.1201A>T	ENSP00000503718.1:p.Lys401Ter
ENST00000679076.1:c.982A>T
ENST00000679111.1:c.1363A>T	ENSP00000504257.1:p.Lys455Ter
ENST00000679189.1:c.1012A>T	ENSP00000503356.1:p.Lys338Ter
ENST00000341012.11:c.1201A>T	ENSP00000343034.7:p.Lys401Ter
ENST00000372220.4:c.226A>T	ENSP00000361294.4:p.Lys76Ter
ENST00000372228.7:c.1429A>T	ENSP00000361302.3:p.Lys477Ter
ENST00000402686.7:c.1363A>T	ENSP00000385797.3:p.Lys455Ter
ENST00000404875.6:c.1012A>T	ENSP00000384531.2:p.Lys338Ter
ENST00000423007.5:c.1363A>T	ENSP00000404119.1:p.Lys455Ter
ENST00000485278.5:n.1918A>T
NM_001077365.1:c.1363A>T	NP_001070833.1:p.Lys455Ter
NM_001077366.1:c.1201A>T	NP_001070834.1:p.Lys401Ter
NM_001136113.1:c.1363A>T	NP_001129585.1:p.Lys455Ter
NM_001136114.1:c.1012A>T	NP_001129586.1:p.Lys338Ter
NM_007171.3:c.1429A>T	NP_009102.3:p.Lys477Ter
XM_005272156.1:c.1429A>T	XP_005272213.1:p.Lys477Ter
XM_005272158.1:c.1267A>T	XP_005272215.1:p.Lys423Ter
XM_005272159.1:c.1078A>T	XP_005272216.1:p.Lys360Ter
XM_005272162.1:c.232A>T	XP_005272219.1:p.Lys78Ter
XM_006716932.1:c.1078A>T	XP_006716995.1:p.Lys360Ter
XM_011518140.1:c.1282A>T	XP_011516442.1:p.Lys428Ter
XM_011518141.1:c.1216A>T	XP_011516443.1:p.Lys406Ter
XM_011518142.1:c.1120A>T	XP_011516444.1:p.Lys374Ter
XM_011518143.1:c.1114A>T	XP_011516445.1:p.Lys372Ter
XM_011518144.1:c.1429A>T	XP_011516446.1:p.Lys477Ter
XM_011518145.1:c.973A>T	XP_011516447.1:p.Lys325Ter
XM_011518146.1:c.1114A>T	XP_011516448.1:p.Lys372Ter
XM_011518147.1:c.301A>T	XP_011516449.1:p.Lys101Ter
XR_929703.1:n.1605A>T
NM_001353193.1:c.1429A>T	NP_001340122.1:p.Lys477Ter
NM_001353194.1:c.1201A>T	NP_001340123.1:p.Lys401Ter
NM_001353195.1:c.1012A>T	NP_001340124.1:p.Lys338Ter
NM_001353196.1:c.1273A>T	NP_001340125.1:p.Lys425Ter
NM_001353197.1:c.1267A>T	NP_001340126.1:p.Lys423Ter
NM_001353198.1:c.1267A>T	NP_001340127.1:p.Lys423Ter
NM_001353199.1:c.1078A>T	NP_001340128.1:p.Lys360Ter
NM_001353200.1:c.907A>T	NP_001340129.1:p.Lys303Ter
NR_148391.1:n.1413A>T
NR_148392.1:n.1631A>T
NR_148393.1:n.1413A>T
NR_148394.1:n.1306A>T
NR_148395.1:n.1565A>T
NR_148396.1:n.1199A>T
NR_148397.1:n.1463A>T
NR_148398.1:n.1418A>T
NR_148399.1:n.1805A>T
NR_148400.1:n.1404A>T
XM_005272162.3:c.232A>T	XP_005272219.1:p.Lys78Ter
XM_006716932.2:c.1078A>T	XP_006716995.1:p.Lys360Ter
XM_011518140.2:c.1282A>T	XP_011516442.1:p.Lys428Ter
XM_011518141.2:c.1216A>T	XP_011516443.1:p.Lys406Ter
XM_011518142.2:c.1120A>T	XP_011516444.1:p.Lys374Ter
XM_011518143.2:c.1114A>T	XP_011516445.1:p.Lys372Ter
XM_011518145.2:c.973A>T	XP_011516447.1:p.Lys325Ter
XM_017014205.2:c.232A>T	XP_016869694.1:p.Lys78Ter
XM_024447380.1:c.232A>T	XP_024303148.1:p.Lys78Ter
XM_024447381.1:c.538A>T	XP_024303149.1:p.Lys180Ter
XM_024447382.1:c.232A>T	XP_024303150.1:p.Lys78Ter
XR_001746160.2:n.1533A>T
XR_001746162.2:n.1599A>T
XR_001746164.1:n.1316A>T
XR_001746166.2:n.1750A>T
NM_001077365.2:c.1363A>T MANE Select	NP_001070833.1:p.Lys455Ter
NM_001077366.2:c.1201A>T	NP_001070834.1:p.Lys401Ter
NM_001136113.2:c.1363A>T	NP_001129585.1:p.Lys455Ter
NM_001136114.2:c.1012A>T	NP_001129586.1:p.Lys338Ter
NM_001353193.2:c.1429A>T	NP_001340122.2:p.Lys477Ter
NM_001353194.2:c.1201A>T	NP_001340123.1:p.Lys401Ter
NM_001353195.2:c.1012A>T	NP_001340124.1:p.Lys338Ter
NM_001353196.2:c.1273A>T	NP_001340125.1:p.Lys425Ter
NM_001353197.2:c.1267A>T	NP_001340126.2:p.Lys423Ter
NM_001353198.2:c.1267A>T	NP_001340127.2:p.Lys423Ter
NM_001353199.2:c.1078A>T	NP_001340128.2:p.Lys360Ter
NM_001353200.2:c.907A>T	NP_001340129.1:p.Lys303Ter
NM_001374689.1:c.1351A>T	NP_001361618.1:p.Lys451Ter
NM_001374690.1:c.1363A>T	NP_001361619.1:p.Lys455Ter
NM_001374691.1:c.1012A>T	NP_001361620.1:p.Lys338Ter
NM_001374692.1:c.1012A>T	NP_001361621.1:p.Lys338Ter
NM_001374693.1:c.1012A>T	NP_001361622.1:p.Lys338Ter
NM_001374695.1:c.973A>T	NP_001361624.1:p.Lys325Ter
NM_007171.4:c.1429A>T	NP_009102.4:p.Lys477Ter
NR_148391.2:n.1397A>T
NR_148392.2:n.1615A>T
NR_148393.2:n.1397A>T
NR_148394.2:n.1290A>T
NR_148395.2:n.1549A>T
NR_148396.2:n.1183A>T
NR_148397.2:n.1447A>T
NR_148398.2:n.1402A>T
NR_148399.2:n.1789A>T
NR_148400.2:n.1388A>T