Canonical Allele Identifier: CA467424020

Gene: POMT1

Linked Data

• dbSNP Id: rs763353195
• MyVariant Identifiers: chr9:g.134397462G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522075G>A , CM000671.2:g.131522075G>A	GRCh38
NC_000009.11:g.134397462G>A , CM000671.1:g.134397462G>A	GRCh37
NC_000009.10:g.133387283G>A	NCBI36
NG_008896.1:g.24174G>A
NG_008896.2:g.24174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1692G>A	ENSP00000343034.7:p.Gly564=
ENST00000404875.7:n.2394G>A
ENST00000423007.6:c.1911G>A	ENSP00000404119.2:p.Gly637=
ENST00000677295.2:c.*2198G>A	ENSP00000504346.2:n.*2198G>A
ENST00000678264.2:c.*2037G>A	ENSP00000503157.2:n.*2037G>A
ENST00000682070.1:n.2291-127G>A
ENST00000682813.1:n.2258G>A
ENST00000683392.1:n.4573-127G>A
ENST00000683712.1:n.2259G>A
ENST00000683900.1:n.3754G>A
ENST00000684062.1:n.2520G>A
ENST00000684579.1:n.3700G>A
ENST00000684679.1:n.1081G>A
ENST00000341012.12:c.1692G>A	ENSP00000343034.7:p.Gly564=
ENST00000372220.5:c.723G>A	ENSP00000361294.5:p.Gly241=
ENST00000372228.9:c.1920G>A	ENSP00000361302.3:p.Gly640=
ENST00000402686.8:c.1854G>A MANE Select	ENSP00000385797.4:p.Gly618=
ENST00000676640.1:c.1854G>A	ENSP00000503281.1:p.Gly618=
ENST00000676803.1:c.915G>A	ENSP00000503093.1:p.Gly305=
ENST00000676835.1:c.*1069G>A	ENSP00000502911.1:n.*1069G>A
ENST00000677029.1:c.1398G>A	ENSP00000502936.1:p.Gly466=
ENST00000677099.1:c.*1564G>A	ENSP00000504553.1:n.*1564G>A
ENST00000677216.1:c.1503G>A	ENSP00000503772.1:p.Gly501=
ENST00000677221.1:n.879G>A
ENST00000677295.1:c.*1203-127G>A	ENSP00000504346.1:n.*1203-127G>A
ENST00000677444.1:c.1799G>A
ENST00000677586.1:n.1221G>A
ENST00000677626.1:c.1503G>A	ENSP00000503552.1:p.Gly501=
ENST00000677853.1:c.*862G>A	ENSP00000503488.1:n.*862G>A
ENST00000678202.1:n.1013G>A
ENST00000678264.1:c.*1231G>A	ENSP00000503157.1:n.*1231G>A
ENST00000678303.1:c.1764G>A	ENSP00000503696.1:p.Gly588=
ENST00000678366.1:c.*2103G>A	ENSP00000504353.1:n.*2103G>A
ENST00000678546.1:c.*1799G>A	ENSP00000503062.1:n.*1799G>A
ENST00000678548.1:c.*1993G>A	ENSP00000503934.1:n.*1993G>A
ENST00000678626.1:n.1690G>A
ENST00000678739.1:c.*2147-127G>A	ENSP00000503806.1:n.*2147-127G>A
ENST00000678833.1:c.*1606G>A	ENSP00000503893.1:n.*1606G>A
ENST00000679023.1:c.1692G>A	ENSP00000503718.1:p.Gly564=
ENST00000679076.1:c.1473G>A
ENST00000679111.1:c.*610G>A	ENSP00000504257.1:n.*610G>A
ENST00000679189.1:c.1503G>A	ENSP00000503356.1:p.Gly501=
ENST00000341012.11:c.1692G>A	ENSP00000343034.7:p.Gly564=
ENST00000372220.4:c.717G>A	ENSP00000361294.4:p.Gly239=
ENST00000372228.7:c.1920G>A	ENSP00000361302.3:p.Gly640=
ENST00000402686.7:c.1854G>A	ENSP00000385797.3:p.Gly618=
ENST00000404875.6:c.1503G>A	ENSP00000384531.2:p.Gly501=
ENST00000423007.5:c.1854G>A	ENSP00000404119.1:p.Gly618=
ENST00000485278.5:n.2404G>A
ENST00000494883.1:n.397G>A
NM_001077365.1:c.1854G>A	NP_001070833.1:p.Gly618=
NM_001077366.1:c.1692G>A	NP_001070834.1:p.Gly564=
NM_001136113.1:c.1854G>A	NP_001129585.1:p.Gly618=
NM_001136114.1:c.1503G>A	NP_001129586.1:p.Gly501=
NM_007171.3:c.1920G>A	NP_009102.3:p.Gly640=
XM_005272156.1:c.1920G>A	XP_005272213.1:p.Gly640=
XM_005272158.1:c.1758G>A	XP_005272215.1:p.Gly586=
XM_005272159.1:c.1569G>A	XP_005272216.1:p.Gly523=
XM_005272162.1:c.723G>A	XP_005272219.1:p.Gly241=
XM_006716932.1:c.1569G>A	XP_006716995.1:p.Gly523=
XM_011518140.1:c.1773G>A	XP_011516442.1:p.Gly591=
XM_011518141.1:c.1707G>A	XP_011516443.1:p.Gly569=
XM_011518142.1:c.1611G>A	XP_011516444.1:p.Gly537=
XM_011518143.1:c.1605G>A	XP_011516445.1:p.Gly535=
XM_011518145.1:c.1464G>A	XP_011516447.1:p.Gly488=
XM_011518147.1:c.792G>A	XP_011516449.1:p.Gly264=
XR_929703.1:n.2096G>A
NM_001353193.1:c.1920G>A	NP_001340122.1:p.Gly640=
NM_001353194.1:c.1692G>A	NP_001340123.1:p.Gly564=
NM_001353195.1:c.1503G>A	NP_001340124.1:p.Gly501=
NM_001353196.1:c.1764G>A	NP_001340125.1:p.Gly588=
NM_001353197.1:c.1758G>A	NP_001340126.1:p.Gly586=
NM_001353198.1:c.1758G>A	NP_001340127.1:p.Gly586=
NM_001353199.1:c.1569G>A	NP_001340128.1:p.Gly523=
NM_001353200.1:c.1398G>A	NP_001340129.1:p.Gly466=
NR_148391.1:n.1904G>A
NR_148392.1:n.2122G>A
NR_148393.1:n.2043G>A
NR_148394.1:n.1797G>A
NR_148395.1:n.2195G>A
NR_148396.1:n.1829G>A
NR_148397.1:n.1954G>A
NR_148398.1:n.1909G>A
NR_148399.1:n.2435G>A
NR_148400.1:n.2034G>A
XM_005272162.3:c.723G>A	XP_005272219.1:p.Gly241=
XM_006716932.2:c.1569G>A	XP_006716995.1:p.Gly523=
XM_011518140.2:c.1773G>A	XP_011516442.1:p.Gly591=
XM_011518141.2:c.1707G>A	XP_011516443.1:p.Gly569=
XM_011518142.2:c.1611G>A	XP_011516444.1:p.Gly537=
XM_011518143.2:c.1605G>A	XP_011516445.1:p.Gly535=
XM_011518145.2:c.1464G>A	XP_011516447.1:p.Gly488=
XM_017014205.2:c.723G>A	XP_016869694.1:p.Gly241=
XM_024447380.1:c.723G>A	XP_024303148.1:p.Gly241=
XM_024447381.1:c.1029G>A	XP_024303149.1:p.Gly343=
XM_024447382.1:c.723G>A	XP_024303150.1:p.Gly241=
XR_001746160.2:n.2024G>A
XR_001746162.2:n.2229G>A
XR_001746164.1:n.1946G>A
XR_001746166.2:n.2241G>A
NM_001077365.2:c.1854G>A MANE Select	NP_001070833.1:p.Gly618=
NM_001077366.2:c.1692G>A	NP_001070834.1:p.Gly564=
NM_001136113.2:c.1854G>A	NP_001129585.1:p.Gly618=
NM_001136114.2:c.1503G>A	NP_001129586.1:p.Gly501=
NM_001353193.2:c.1920G>A	NP_001340122.2:p.Gly640=
NM_001353194.2:c.1692G>A	NP_001340123.1:p.Gly564=
NM_001353195.2:c.1503G>A	NP_001340124.1:p.Gly501=
NM_001353196.2:c.1764G>A	NP_001340125.1:p.Gly588=
NM_001353197.2:c.1758G>A	NP_001340126.2:p.Gly586=
NM_001353198.2:c.1758G>A	NP_001340127.2:p.Gly586=
NM_001353199.2:c.1569G>A	NP_001340128.2:p.Gly523=
NM_001353200.2:c.1398G>A	NP_001340129.1:p.Gly466=
NM_001374689.1:c.1842G>A	NP_001361618.1:p.Gly614=
NM_001374690.1:c.1635G>A	NP_001361619.1:p.Gly545=
NM_001374691.1:c.1503G>A	NP_001361620.1:p.Gly501=
NM_001374692.1:c.1503G>A	NP_001361621.1:p.Gly501=
NM_001374693.1:c.1503G>A	NP_001361622.1:p.Gly501=
NM_001374695.1:c.1464G>A	NP_001361624.1:p.Gly488=
NM_007171.4:c.1920G>A	NP_009102.4:p.Gly640=
NR_148391.2:n.1888G>A
NR_148392.2:n.2106G>A
NR_148393.2:n.2027G>A
NR_148394.2:n.1781G>A
NR_148395.2:n.2179G>A
NR_148396.2:n.1813G>A
NR_148397.2:n.1938G>A
NR_148398.2:n.1893G>A
NR_148399.2:n.2419G>A
NR_148400.2:n.2018G>A