Canonical Allele Identifier: CA1881752633

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518903C= , CM000671.2:g.131518903C=	GRCh38
NC_000009.11:g.134394290C= , CM000671.1:g.134394290C=	GRCh37
NC_000009.10:g.133384111C=	NCBI36
NG_008896.1:g.21002C=
NG_008896.2:g.21002C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1270C=	ENSP00000343034.7:p.Arg424=
ENST00000404875.7:n.1972C=
ENST00000423007.6:c.1489C=	ENSP00000404119.2:p.Arg497=
ENST00000677295.2:c.*1776C=	ENSP00000504346.2:n.*1776C=
ENST00000678264.2:c.*1615C=	ENSP00000503157.2:n.*1615C=
ENST00000682070.1:n.1897C=
ENST00000682539.1:c.370C=
ENST00000682813.1:n.1836C=
ENST00000683392.1:n.4179C=
ENST00000683712.1:n.1837C=
ENST00000683900.1:n.3332C=
ENST00000684062.1:n.2098C=
ENST00000684579.1:n.3278C=
ENST00000684679.1:n.659C=
ENST00000341012.12:c.1270C=	ENSP00000343034.7:p.Arg424=
ENST00000372220.5:c.301C=	ENSP00000361294.5:p.Arg101=
ENST00000372228.9:c.1498C=	ENSP00000361302.3:p.Arg500=
ENST00000402686.8:c.1432C= MANE Select	ENSP00000385797.4:p.Arg478=
ENST00000676640.1:c.1432C=	ENSP00000503281.1:p.Arg478=
ENST00000676803.1:c.607C=	ENSP00000503093.1:p.Arg203=
ENST00000676835.1:c.*647C=	ENSP00000502911.1:n.*647C=
ENST00000677029.1:c.976C=	ENSP00000502936.1:p.Arg326=
ENST00000677099.1:c.*1142C=	ENSP00000504553.1:n.*1142C=
ENST00000677216.1:c.1081C=	ENSP00000503772.1:p.Arg361=
ENST00000677221.1:n.457C=
ENST00000677295.1:c.*809C=	ENSP00000504346.1:n.*809C=
ENST00000677444.1:c.1377C=
ENST00000677586.1:n.913C=
ENST00000677626.1:c.1081C=	ENSP00000503552.1:p.Arg361=
ENST00000677677.1:n.1392C=
ENST00000677853.1:c.*440C=	ENSP00000503488.1:n.*440C=
ENST00000678202.1:n.591C=
ENST00000678264.1:c.*809C=	ENSP00000503157.1:n.*809C=
ENST00000678303.1:c.1342C=	ENSP00000503696.1:p.Arg448=
ENST00000678366.1:c.*1681C=	ENSP00000504353.1:n.*1681C=
ENST00000678546.1:c.*1377C=	ENSP00000503062.1:n.*1377C=
ENST00000678548.1:c.*1504C=	ENSP00000503934.1:n.*1504C=
ENST00000678626.1:n.1268C=
ENST00000678733.1:c.513C=
ENST00000678739.1:c.*1758C=	ENSP00000503806.1:n.*1758C=
ENST00000678833.1:c.*879C=	ENSP00000503893.1:n.*879C=
ENST00000679023.1:c.1270C=	ENSP00000503718.1:p.Arg424=
ENST00000679076.1:c.1051C=
ENST00000679111.1:c.*188C=	ENSP00000504257.1:n.*188C=
ENST00000679189.1:c.1081C=	ENSP00000503356.1:p.Arg361=
ENST00000341012.11:c.1270C=	ENSP00000343034.7:p.Arg424=
ENST00000372220.4:c.295C=	ENSP00000361294.4:p.Arg99=
ENST00000372228.7:c.1498C=	ENSP00000361302.3:p.Arg500=
ENST00000402686.7:c.1432C=	ENSP00000385797.3:p.Arg478=
ENST00000404875.6:c.1081C=	ENSP00000384531.2:p.Arg361=
ENST00000423007.5:c.1432C=	ENSP00000404119.1:p.Arg478=
ENST00000467848.1:n.136C=
ENST00000485278.5:n.1987C=
NM_001077365.1:c.1432C=	NP_001070833.1:p.Arg478=
NM_001077366.1:c.1270C=	NP_001070834.1:p.Arg424=
NM_001136113.1:c.1432C=	NP_001129585.1:p.Arg478=
NM_001136114.1:c.1081C=	NP_001129586.1:p.Arg361=
NM_007171.3:c.1498C=	NP_009102.3:p.Arg500=
XM_005272156.1:c.1498C=	XP_005272213.1:p.Arg500=
XM_005272158.1:c.1336C=	XP_005272215.1:p.Arg446=
XM_005272159.1:c.1147C=	XP_005272216.1:p.Arg383=
XM_005272162.1:c.301C=	XP_005272219.1:p.Arg101=
XM_006716932.1:c.1147C=	XP_006716995.1:p.Arg383=
XM_011518140.1:c.1351C=	XP_011516442.1:p.Arg451=
XM_011518141.1:c.1285C=	XP_011516443.1:p.Arg429=
XM_011518142.1:c.1189C=	XP_011516444.1:p.Arg397=
XM_011518143.1:c.1183C=	XP_011516445.1:p.Arg395=
XM_011518145.1:c.1042C=	XP_011516447.1:p.Arg348=
XM_011518147.1:c.370C=	XP_011516449.1:p.Arg124=
XR_929703.1:n.1674C=
NM_001353193.1:c.1498C=	NP_001340122.1:p.Arg500=
NM_001353194.1:c.1270C=	NP_001340123.1:p.Arg424=
NM_001353195.1:c.1081C=	NP_001340124.1:p.Arg361=
NM_001353196.1:c.1342C=	NP_001340125.1:p.Arg448=
NM_001353197.1:c.1336C=	NP_001340126.1:p.Arg446=
NM_001353198.1:c.1336C=	NP_001340127.1:p.Arg446=
NM_001353199.1:c.1147C=	NP_001340128.1:p.Arg383=
NM_001353200.1:c.976C=	NP_001340129.1:p.Arg326=
NR_148391.1:n.1482C=
NR_148392.1:n.1700C=
NR_148393.1:n.1621C=
NR_148394.1:n.1375C=
NR_148395.1:n.1773C=
NR_148396.1:n.1407C=
NR_148397.1:n.1532C=
NR_148398.1:n.1487C=
NR_148399.1:n.2013C=
NR_148400.1:n.1612C=
XM_005272162.3:c.301C=	XP_005272219.1:p.Arg101=
XM_006716932.2:c.1147C=	XP_006716995.1:p.Arg383=
XM_011518140.2:c.1351C=	XP_011516442.1:p.Arg451=
XM_011518141.2:c.1285C=	XP_011516443.1:p.Arg429=
XM_011518142.2:c.1189C=	XP_011516444.1:p.Arg397=
XM_011518143.2:c.1183C=	XP_011516445.1:p.Arg395=
XM_011518145.2:c.1042C=	XP_011516447.1:p.Arg348=
XM_017014205.2:c.301C=	XP_016869694.1:p.Arg101=
XM_024447380.1:c.301C=	XP_024303148.1:p.Arg101=
XM_024447381.1:c.607C=	XP_024303149.1:p.Arg203=
XM_024447382.1:c.301C=	XP_024303150.1:p.Arg101=
XR_001746160.2:n.1602C=
XR_001746162.2:n.1807C=
XR_001746164.1:n.1524C=
XR_001746166.2:n.1819C=
NM_001077365.2:c.1432C= MANE Select	NP_001070833.1:p.Arg478=
NM_001077366.2:c.1270C=	NP_001070834.1:p.Arg424=
NM_001136113.2:c.1432C=	NP_001129585.1:p.Arg478=
NM_001136114.2:c.1081C=	NP_001129586.1:p.Arg361=
NM_001353193.2:c.1498C=	NP_001340122.2:p.Arg500=
NM_001353194.2:c.1270C=	NP_001340123.1:p.Arg424=
NM_001353195.2:c.1081C=	NP_001340124.1:p.Arg361=
NM_001353196.2:c.1342C=	NP_001340125.1:p.Arg448=
NM_001353197.2:c.1336C=	NP_001340126.2:p.Arg446=
NM_001353198.2:c.1336C=	NP_001340127.2:p.Arg446=
NM_001353199.2:c.1147C=	NP_001340128.2:p.Arg383=
NM_001353200.2:c.976C=	NP_001340129.1:p.Arg326=
NM_001374689.1:c.1420C=	NP_001361618.1:p.Arg474=
NM_001374690.1:c.1365+366C=	NP_001361619.1:n.1365+366C=
NM_001374691.1:c.1081C=	NP_001361620.1:p.Arg361=
NM_001374692.1:c.1081C=	NP_001361621.1:p.Arg361=
NM_001374693.1:c.1081C=	NP_001361622.1:p.Arg361=
NM_001374695.1:c.1042C=	NP_001361624.1:p.Arg348=
NM_007171.4:c.1498C=	NP_009102.4:p.Arg500=
NR_148391.2:n.1466C=
NR_148392.2:n.1684C=
NR_148393.2:n.1605C=
NR_148394.2:n.1359C=
NR_148395.2:n.1757C=
NR_148396.2:n.1391C=
NR_148397.2:n.1516C=
NR_148398.2:n.1471C=
NR_148399.2:n.1997C=
NR_148400.2:n.1596C=