Canonical Allele Identifier: CA375314259

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522091-G-A
• MyVariant Identifiers: chr9:g.134397478G>A (hg19) ; chr9:g.131522091G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522091G>A , CM000671.2:g.131522091G>A	GRCh38
NC_000009.11:g.134397478G>A , CM000671.1:g.134397478G>A	GRCh37
NC_000009.10:g.133387299G>A	NCBI36
NG_008896.1:g.24190G>A
NG_008896.2:g.24190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1708G>A	ENSP00000343034.7:p.Gly570Ser
ENST00000404875.7:n.2410G>A
ENST00000423007.6:c.1927G>A	ENSP00000404119.2:p.Gly643Ser
ENST00000677295.2:c.*2214G>A	ENSP00000504346.2:n.*2214G>A
ENST00000678264.2:c.*2053G>A	ENSP00000503157.2:n.*2053G>A
ENST00000682070.1:n.2291-111G>A
ENST00000682813.1:n.2274G>A
ENST00000683392.1:n.4573-111G>A
ENST00000683712.1:n.2275G>A
ENST00000683900.1:n.3770G>A
ENST00000684062.1:n.2536G>A
ENST00000684579.1:n.3716G>A
ENST00000684679.1:n.1097G>A
ENST00000341012.12:c.1708G>A	ENSP00000343034.7:p.Gly570Ser
ENST00000372220.5:c.739G>A	ENSP00000361294.5:p.Gly247Ser
ENST00000372228.9:c.1936G>A	ENSP00000361302.3:p.Gly646Ser
ENST00000402686.8:c.1870G>A MANE Select	ENSP00000385797.4:p.Gly624Ser
ENST00000676640.1:c.1870G>A	ENSP00000503281.1:p.Gly624Ser
ENST00000676803.1:c.931G>A	ENSP00000503093.1:p.Gly311Ser
ENST00000676835.1:c.*1085G>A	ENSP00000502911.1:n.*1085G>A
ENST00000677029.1:c.1414G>A	ENSP00000502936.1:p.Gly472Ser
ENST00000677099.1:c.*1580G>A	ENSP00000504553.1:n.*1580G>A
ENST00000677216.1:c.1519G>A	ENSP00000503772.1:p.Gly507Ser
ENST00000677221.1:n.895G>A
ENST00000677295.1:c.*1203-111G>A	ENSP00000504346.1:n.*1203-111G>A
ENST00000677444.1:c.1815G>A
ENST00000677586.1:n.1237G>A
ENST00000677626.1:c.1519G>A	ENSP00000503552.1:p.Gly507Ser
ENST00000677853.1:c.*878G>A	ENSP00000503488.1:n.*878G>A
ENST00000678202.1:n.1029G>A
ENST00000678264.1:c.*1247G>A	ENSP00000503157.1:n.*1247G>A
ENST00000678303.1:c.1780G>A	ENSP00000503696.1:p.Gly594Ser
ENST00000678366.1:c.*2119G>A	ENSP00000504353.1:n.*2119G>A
ENST00000678546.1:c.*1815G>A	ENSP00000503062.1:n.*1815G>A
ENST00000678548.1:c.*2009G>A	ENSP00000503934.1:n.*2009G>A
ENST00000678626.1:n.1706G>A
ENST00000678739.1:c.*2147-111G>A	ENSP00000503806.1:n.*2147-111G>A
ENST00000678833.1:c.*1622G>A	ENSP00000503893.1:n.*1622G>A
ENST00000679023.1:c.1708G>A	ENSP00000503718.1:p.Gly570Ser
ENST00000679076.1:c.1489G>A
ENST00000679111.1:c.*626G>A	ENSP00000504257.1:n.*626G>A
ENST00000679189.1:c.1519G>A	ENSP00000503356.1:p.Gly507Ser
ENST00000341012.11:c.1708G>A	ENSP00000343034.7:p.Gly570Ser
ENST00000372220.4:c.733G>A	ENSP00000361294.4:p.Gly245Ser
ENST00000372228.7:c.1936G>A	ENSP00000361302.3:p.Gly646Ser
ENST00000402686.7:c.1870G>A	ENSP00000385797.3:p.Gly624Ser
ENST00000404875.6:c.1519G>A	ENSP00000384531.2:p.Gly507Ser
ENST00000423007.5:c.1870G>A	ENSP00000404119.1:p.Gly624Ser
ENST00000485278.5:n.2420G>A
ENST00000494883.1:n.413G>A
NM_001077365.1:c.1870G>A	NP_001070833.1:p.Gly624Ser
NM_001077366.1:c.1708G>A	NP_001070834.1:p.Gly570Ser
NM_001136113.1:c.1870G>A	NP_001129585.1:p.Gly624Ser
NM_001136114.1:c.1519G>A	NP_001129586.1:p.Gly507Ser
NM_007171.3:c.1936G>A	NP_009102.3:p.Gly646Ser
XM_005272156.1:c.1936G>A	XP_005272213.1:p.Gly646Ser
XM_005272158.1:c.1774G>A	XP_005272215.1:p.Gly592Ser
XM_005272159.1:c.1585G>A	XP_005272216.1:p.Gly529Ser
XM_005272162.1:c.739G>A	XP_005272219.1:p.Gly247Ser
XM_006716932.1:c.1585G>A	XP_006716995.1:p.Gly529Ser
XM_011518140.1:c.1789G>A	XP_011516442.1:p.Gly597Ser
XM_011518141.1:c.1723G>A	XP_011516443.1:p.Gly575Ser
XM_011518142.1:c.1627G>A	XP_011516444.1:p.Gly543Ser
XM_011518143.1:c.1621G>A	XP_011516445.1:p.Gly541Ser
XM_011518145.1:c.1480G>A	XP_011516447.1:p.Gly494Ser
XM_011518147.1:c.808G>A	XP_011516449.1:p.Gly270Ser
XR_929703.1:n.2112G>A
NM_001353193.1:c.1936G>A	NP_001340122.1:p.Gly646Ser
NM_001353194.1:c.1708G>A	NP_001340123.1:p.Gly570Ser
NM_001353195.1:c.1519G>A	NP_001340124.1:p.Gly507Ser
NM_001353196.1:c.1780G>A	NP_001340125.1:p.Gly594Ser
NM_001353197.1:c.1774G>A	NP_001340126.1:p.Gly592Ser
NM_001353198.1:c.1774G>A	NP_001340127.1:p.Gly592Ser
NM_001353199.1:c.1585G>A	NP_001340128.1:p.Gly529Ser
NM_001353200.1:c.1414G>A	NP_001340129.1:p.Gly472Ser
NR_148391.1:n.1920G>A
NR_148392.1:n.2138G>A
NR_148393.1:n.2059G>A
NR_148394.1:n.1813G>A
NR_148395.1:n.2211G>A
NR_148396.1:n.1845G>A
NR_148397.1:n.1970G>A
NR_148398.1:n.1925G>A
NR_148399.1:n.2451G>A
NR_148400.1:n.2050G>A
XM_005272162.3:c.739G>A	XP_005272219.1:p.Gly247Ser
XM_006716932.2:c.1585G>A	XP_006716995.1:p.Gly529Ser
XM_011518140.2:c.1789G>A	XP_011516442.1:p.Gly597Ser
XM_011518141.2:c.1723G>A	XP_011516443.1:p.Gly575Ser
XM_011518142.2:c.1627G>A	XP_011516444.1:p.Gly543Ser
XM_011518143.2:c.1621G>A	XP_011516445.1:p.Gly541Ser
XM_011518145.2:c.1480G>A	XP_011516447.1:p.Gly494Ser
XM_017014205.2:c.739G>A	XP_016869694.1:p.Gly247Ser
XM_024447380.1:c.739G>A	XP_024303148.1:p.Gly247Ser
XM_024447381.1:c.1045G>A	XP_024303149.1:p.Gly349Ser
XM_024447382.1:c.739G>A	XP_024303150.1:p.Gly247Ser
XR_001746160.2:n.2040G>A
XR_001746162.2:n.2245G>A
XR_001746164.1:n.1962G>A
XR_001746166.2:n.2257G>A
NM_001077365.2:c.1870G>A MANE Select	NP_001070833.1:p.Gly624Ser
NM_001077366.2:c.1708G>A	NP_001070834.1:p.Gly570Ser
NM_001136113.2:c.1870G>A	NP_001129585.1:p.Gly624Ser
NM_001136114.2:c.1519G>A	NP_001129586.1:p.Gly507Ser
NM_001353193.2:c.1936G>A	NP_001340122.2:p.Gly646Ser
NM_001353194.2:c.1708G>A	NP_001340123.1:p.Gly570Ser
NM_001353195.2:c.1519G>A	NP_001340124.1:p.Gly507Ser
NM_001353196.2:c.1780G>A	NP_001340125.1:p.Gly594Ser
NM_001353197.2:c.1774G>A	NP_001340126.2:p.Gly592Ser
NM_001353198.2:c.1774G>A	NP_001340127.2:p.Gly592Ser
NM_001353199.2:c.1585G>A	NP_001340128.2:p.Gly529Ser
NM_001353200.2:c.1414G>A	NP_001340129.1:p.Gly472Ser
NM_001374689.1:c.1858G>A	NP_001361618.1:p.Gly620Ser
NM_001374690.1:c.1651G>A	NP_001361619.1:p.Gly551Ser
NM_001374691.1:c.1519G>A	NP_001361620.1:p.Gly507Ser
NM_001374692.1:c.1519G>A	NP_001361621.1:p.Gly507Ser
NM_001374693.1:c.1519G>A	NP_001361622.1:p.Gly507Ser
NM_001374695.1:c.1480G>A	NP_001361624.1:p.Gly494Ser
NM_007171.4:c.1936G>A	NP_009102.4:p.Gly646Ser
NR_148391.2:n.1904G>A
NR_148392.2:n.2122G>A
NR_148393.2:n.2043G>A
NR_148394.2:n.1797G>A
NR_148395.2:n.2195G>A
NR_148396.2:n.1829G>A
NR_148397.2:n.1954G>A
NR_148398.2:n.1909G>A
NR_148399.2:n.2435G>A
NR_148400.2:n.2034G>A