Canonical Allele Identifier: CA375312088

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394324A>C (hg19) ; chr9:g.131518937A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518937A>C , CM000671.2:g.131518937A>C	GRCh38
NC_000009.11:g.134394324A>C , CM000671.1:g.134394324A>C	GRCh37
NC_000009.10:g.133384145A>C	NCBI36
NG_008896.1:g.21036A>C
NG_008896.2:g.21036A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1304A>C	ENSP00000343034.7:p.Glu435Ala
ENST00000404875.7:n.2006A>C
ENST00000423007.6:c.1523A>C	ENSP00000404119.2:p.Glu508Ala
ENST00000677295.2:c.*1810A>C	ENSP00000504346.2:n.*1810A>C
ENST00000678264.2:c.*1649A>C	ENSP00000503157.2:n.*1649A>C
ENST00000682070.1:n.1931A>C
ENST00000682539.1:c.404A>C
ENST00000682813.1:n.1870A>C
ENST00000683392.1:n.4213A>C
ENST00000683712.1:n.1871A>C
ENST00000683900.1:n.3366A>C
ENST00000684062.1:n.2132A>C
ENST00000684579.1:n.3312A>C
ENST00000684679.1:n.693A>C
ENST00000341012.12:c.1304A>C	ENSP00000343034.7:p.Glu435Ala
ENST00000372220.5:c.335A>C	ENSP00000361294.5:p.Glu112Ala
ENST00000372228.9:c.1532A>C	ENSP00000361302.3:p.Glu511Ala
ENST00000402686.8:c.1466A>C MANE Select	ENSP00000385797.4:p.Glu489Ala
ENST00000676640.1:c.1466A>C	ENSP00000503281.1:p.Glu489Ala
ENST00000676803.1:c.641A>C	ENSP00000503093.1:p.Glu214Ala
ENST00000676835.1:c.*681A>C	ENSP00000502911.1:n.*681A>C
ENST00000677029.1:c.1010A>C	ENSP00000502936.1:p.Glu337Ala
ENST00000677099.1:c.*1176A>C	ENSP00000504553.1:n.*1176A>C
ENST00000677216.1:c.1115A>C	ENSP00000503772.1:p.Glu372Ala
ENST00000677221.1:n.491A>C
ENST00000677295.1:c.*843A>C	ENSP00000504346.1:n.*843A>C
ENST00000677444.1:c.1411A>C
ENST00000677586.1:n.947A>C
ENST00000677626.1:c.1115A>C	ENSP00000503552.1:p.Glu372Ala
ENST00000677677.1:n.1426A>C
ENST00000677853.1:c.*474A>C	ENSP00000503488.1:n.*474A>C
ENST00000678202.1:n.625A>C
ENST00000678264.1:c.*843A>C	ENSP00000503157.1:n.*843A>C
ENST00000678303.1:c.1376A>C	ENSP00000503696.1:p.Glu459Ala
ENST00000678366.1:c.*1715A>C	ENSP00000504353.1:n.*1715A>C
ENST00000678546.1:c.*1411A>C	ENSP00000503062.1:n.*1411A>C
ENST00000678548.1:c.*1538A>C	ENSP00000503934.1:n.*1538A>C
ENST00000678626.1:n.1302A>C
ENST00000678733.1:c.547A>C
ENST00000678739.1:c.*1792A>C	ENSP00000503806.1:n.*1792A>C
ENST00000678833.1:c.*913A>C	ENSP00000503893.1:n.*913A>C
ENST00000679023.1:c.1304A>C	ENSP00000503718.1:p.Glu435Ala
ENST00000679076.1:c.1085A>C
ENST00000679111.1:c.*222A>C	ENSP00000504257.1:n.*222A>C
ENST00000679189.1:c.1115A>C	ENSP00000503356.1:p.Glu372Ala
ENST00000341012.11:c.1304A>C	ENSP00000343034.7:p.Glu435Ala
ENST00000372220.4:c.329A>C	ENSP00000361294.4:p.Glu110Ala
ENST00000372228.7:c.1532A>C	ENSP00000361302.3:p.Glu511Ala
ENST00000402686.7:c.1466A>C	ENSP00000385797.3:p.Glu489Ala
ENST00000404875.6:c.1115A>C	ENSP00000384531.2:p.Glu372Ala
ENST00000423007.5:c.1466A>C	ENSP00000404119.1:p.Glu489Ala
ENST00000467848.1:n.170A>C
ENST00000485278.5:n.2021A>C
NM_001077365.1:c.1466A>C	NP_001070833.1:p.Glu489Ala
NM_001077366.1:c.1304A>C	NP_001070834.1:p.Glu435Ala
NM_001136113.1:c.1466A>C	NP_001129585.1:p.Glu489Ala
NM_001136114.1:c.1115A>C	NP_001129586.1:p.Glu372Ala
NM_007171.3:c.1532A>C	NP_009102.3:p.Glu511Ala
XM_005272156.1:c.1532A>C	XP_005272213.1:p.Glu511Ala
XM_005272158.1:c.1370A>C	XP_005272215.1:p.Glu457Ala
XM_005272159.1:c.1181A>C	XP_005272216.1:p.Glu394Ala
XM_005272162.1:c.335A>C	XP_005272219.1:p.Glu112Ala
XM_006716932.1:c.1181A>C	XP_006716995.1:p.Glu394Ala
XM_011518140.1:c.1385A>C	XP_011516442.1:p.Glu462Ala
XM_011518141.1:c.1319A>C	XP_011516443.1:p.Glu440Ala
XM_011518142.1:c.1223A>C	XP_011516444.1:p.Glu408Ala
XM_011518143.1:c.1217A>C	XP_011516445.1:p.Glu406Ala
XM_011518145.1:c.1076A>C	XP_011516447.1:p.Glu359Ala
XM_011518147.1:c.404A>C	XP_011516449.1:p.Glu135Ala
XR_929703.1:n.1708A>C
NM_001353193.1:c.1532A>C	NP_001340122.1:p.Glu511Ala
NM_001353194.1:c.1304A>C	NP_001340123.1:p.Glu435Ala
NM_001353195.1:c.1115A>C	NP_001340124.1:p.Glu372Ala
NM_001353196.1:c.1376A>C	NP_001340125.1:p.Glu459Ala
NM_001353197.1:c.1370A>C	NP_001340126.1:p.Glu457Ala
NM_001353198.1:c.1370A>C	NP_001340127.1:p.Glu457Ala
NM_001353199.1:c.1181A>C	NP_001340128.1:p.Glu394Ala
NM_001353200.1:c.1010A>C	NP_001340129.1:p.Glu337Ala
NR_148391.1:n.1516A>C
NR_148392.1:n.1734A>C
NR_148393.1:n.1655A>C
NR_148394.1:n.1409A>C
NR_148395.1:n.1807A>C
NR_148396.1:n.1441A>C
NR_148397.1:n.1566A>C
NR_148398.1:n.1521A>C
NR_148399.1:n.2047A>C
NR_148400.1:n.1646A>C
XM_005272162.3:c.335A>C	XP_005272219.1:p.Glu112Ala
XM_006716932.2:c.1181A>C	XP_006716995.1:p.Glu394Ala
XM_011518140.2:c.1385A>C	XP_011516442.1:p.Glu462Ala
XM_011518141.2:c.1319A>C	XP_011516443.1:p.Glu440Ala
XM_011518142.2:c.1223A>C	XP_011516444.1:p.Glu408Ala
XM_011518143.2:c.1217A>C	XP_011516445.1:p.Glu406Ala
XM_011518145.2:c.1076A>C	XP_011516447.1:p.Glu359Ala
XM_017014205.2:c.335A>C	XP_016869694.1:p.Glu112Ala
XM_024447380.1:c.335A>C	XP_024303148.1:p.Glu112Ala
XM_024447381.1:c.641A>C	XP_024303149.1:p.Glu214Ala
XM_024447382.1:c.335A>C	XP_024303150.1:p.Glu112Ala
XR_001746160.2:n.1636A>C
XR_001746162.2:n.1841A>C
XR_001746164.1:n.1558A>C
XR_001746166.2:n.1853A>C
NM_001077365.2:c.1466A>C MANE Select	NP_001070833.1:p.Glu489Ala
NM_001077366.2:c.1304A>C	NP_001070834.1:p.Glu435Ala
NM_001136113.2:c.1466A>C	NP_001129585.1:p.Glu489Ala
NM_001136114.2:c.1115A>C	NP_001129586.1:p.Glu372Ala
NM_001353193.2:c.1532A>C	NP_001340122.2:p.Glu511Ala
NM_001353194.2:c.1304A>C	NP_001340123.1:p.Glu435Ala
NM_001353195.2:c.1115A>C	NP_001340124.1:p.Glu372Ala
NM_001353196.2:c.1376A>C	NP_001340125.1:p.Glu459Ala
NM_001353197.2:c.1370A>C	NP_001340126.2:p.Glu457Ala
NM_001353198.2:c.1370A>C	NP_001340127.2:p.Glu457Ala
NM_001353199.2:c.1181A>C	NP_001340128.2:p.Glu394Ala
NM_001353200.2:c.1010A>C	NP_001340129.1:p.Glu337Ala
NM_001374689.1:c.1454A>C	NP_001361618.1:p.Glu485Ala
NM_001374690.1:c.1365+400A>C	NP_001361619.1:n.1365+400A>C
NM_001374691.1:c.1115A>C	NP_001361620.1:p.Glu372Ala
NM_001374692.1:c.1115A>C	NP_001361621.1:p.Glu372Ala
NM_001374693.1:c.1115A>C	NP_001361622.1:p.Glu372Ala
NM_001374695.1:c.1076A>C	NP_001361624.1:p.Glu359Ala
NM_007171.4:c.1532A>C	NP_009102.4:p.Glu511Ala
NR_148391.2:n.1500A>C
NR_148392.2:n.1718A>C
NR_148393.2:n.1639A>C
NR_148394.2:n.1393A>C
NR_148395.2:n.1791A>C
NR_148396.2:n.1425A>C
NR_148397.2:n.1550A>C
NR_148398.2:n.1505A>C
NR_148399.2:n.2031A>C
NR_148400.2:n.1630A>C