Canonical Allele Identifier: CA375315065

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522979-A-G
• MyVariant Identifiers: chr9:g.134398366A>G (hg19) ; chr9:g.131522979A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522979A>G , CM000671.2:g.131522979A>G	GRCh38
NC_000009.11:g.134398366A>G , CM000671.1:g.134398366A>G	GRCh37
NC_000009.10:g.133388187A>G	NCBI36
NG_008896.1:g.25078A>G
NG_008896.2:g.25078A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1889A>G	ENSP00000343034.7:p.Tyr630Cys
ENST00000404875.7:n.2591A>G
ENST00000423007.6:c.2108A>G	ENSP00000404119.2:p.Tyr703Cys
ENST00000677295.2:c.*2395A>G	ENSP00000504346.2:n.*2395A>G
ENST00000678264.2:c.*2234A>G	ENSP00000503157.2:n.*2234A>G
ENST00000682070.1:n.2361A>G
ENST00000682639.1:c.48A>G
ENST00000682813.1:n.2448A>G
ENST00000683231.1:c.48A>G
ENST00000683392.1:n.4643A>G
ENST00000683712.1:n.2456A>G
ENST00000683900.1:n.3951A>G
ENST00000684062.1:n.2717A>G
ENST00000684399.1:c.48A>G
ENST00000684579.1:n.3897A>G
ENST00000341012.12:c.1889A>G	ENSP00000343034.7:p.Tyr630Cys
ENST00000372220.5:c.920A>G	ENSP00000361294.5:p.Tyr307Cys
ENST00000372228.9:c.2117A>G	ENSP00000361302.3:p.Tyr706Cys
ENST00000402686.8:c.2051A>G MANE Select	ENSP00000385797.4:p.Tyr684Cys
ENST00000676640.1:c.2051A>G	ENSP00000503281.1:p.Tyr684Cys
ENST00000676803.1:c.1112A>G	ENSP00000503093.1:p.Tyr371Cys
ENST00000676835.1:c.*1266A>G	ENSP00000502911.1:n.*1266A>G
ENST00000677029.1:c.1595A>G	ENSP00000502936.1:p.Tyr532Cys
ENST00000677099.1:c.*1761A>G	ENSP00000504553.1:n.*1761A>G
ENST00000677216.1:c.1700A>G	ENSP00000503772.1:p.Tyr567Cys
ENST00000677221.1:n.1076A>G
ENST00000677295.1:c.*1273A>G	ENSP00000504346.1:n.*1273A>G
ENST00000677444.1:c.1996A>G
ENST00000677586.1:n.1418A>G
ENST00000677626.1:c.1700A>G	ENSP00000503552.1:p.Tyr567Cys
ENST00000677853.1:c.*1059A>G	ENSP00000503488.1:n.*1059A>G
ENST00000678264.1:c.*1428A>G	ENSP00000503157.1:n.*1428A>G
ENST00000678303.1:c.1961A>G	ENSP00000503696.1:p.Tyr654Cys
ENST00000678366.1:c.*2300A>G	ENSP00000504353.1:n.*2300A>G
ENST00000678546.1:c.*1996A>G	ENSP00000503062.1:n.*1996A>G
ENST00000678548.1:c.*2190A>G	ENSP00000503934.1:n.*2190A>G
ENST00000678626.1:n.1887A>G
ENST00000678739.1:c.*2217A>G	ENSP00000503806.1:n.*2217A>G
ENST00000678833.1:c.*1803A>G	ENSP00000503893.1:n.*1803A>G
ENST00000679023.1:c.1889A>G	ENSP00000503718.1:p.Tyr630Cys
ENST00000679076.1:c.1670A>G
ENST00000679111.1:c.*807A>G	ENSP00000504257.1:n.*807A>G
ENST00000679189.1:c.1700A>G	ENSP00000503356.1:p.Tyr567Cys
ENST00000341012.11:c.1889A>G	ENSP00000343034.7:p.Tyr630Cys
ENST00000372220.4:c.914A>G	ENSP00000361294.4:p.Tyr305Cys
ENST00000372228.7:c.2117A>G	ENSP00000361302.3:p.Tyr706Cys
ENST00000402686.7:c.2051A>G	ENSP00000385797.3:p.Tyr684Cys
ENST00000404875.6:c.1700A>G	ENSP00000384531.2:p.Tyr567Cys
ENST00000423007.5:c.2051A>G	ENSP00000404119.1:p.Tyr684Cys
ENST00000485278.5:n.2601A>G
NM_001077365.1:c.2051A>G	NP_001070833.1:p.Tyr684Cys
NM_001077366.1:c.1889A>G	NP_001070834.1:p.Tyr630Cys
NM_001136113.1:c.2051A>G	NP_001129585.1:p.Tyr684Cys
NM_001136114.1:c.1700A>G	NP_001129586.1:p.Tyr567Cys
NM_007171.3:c.2117A>G	NP_009102.3:p.Tyr706Cys
XM_005272156.1:c.2117A>G	XP_005272213.1:p.Tyr706Cys
XM_005272158.1:c.1955A>G	XP_005272215.1:p.Tyr652Cys
XM_005272159.1:c.1766A>G	XP_005272216.1:p.Tyr589Cys
XM_005272162.1:c.920A>G	XP_005272219.1:p.Tyr307Cys
XM_006716932.1:c.1766A>G	XP_006716995.1:p.Tyr589Cys
XM_011518140.1:c.1970A>G	XP_011516442.1:p.Tyr657Cys
XM_011518141.1:c.1904A>G	XP_011516443.1:p.Tyr635Cys
XM_011518142.1:c.1808A>G	XP_011516444.1:p.Tyr603Cys
XM_011518143.1:c.1802A>G	XP_011516445.1:p.Tyr601Cys
XM_011518145.1:c.1661A>G	XP_011516447.1:p.Tyr554Cys
XM_011518147.1:c.989A>G	XP_011516449.1:p.Tyr330Cys
XR_929703.1:n.2293A>G
NM_001353193.1:c.2117A>G	NP_001340122.1:p.Tyr706Cys
NM_001353194.1:c.1889A>G	NP_001340123.1:p.Tyr630Cys
NM_001353195.1:c.1700A>G	NP_001340124.1:p.Tyr567Cys
NM_001353196.1:c.1961A>G	NP_001340125.1:p.Tyr654Cys
NM_001353197.1:c.1955A>G	NP_001340126.1:p.Tyr652Cys
NM_001353198.1:c.1955A>G	NP_001340127.1:p.Tyr652Cys
NM_001353199.1:c.1766A>G	NP_001340128.1:p.Tyr589Cys
NM_001353200.1:c.1595A>G	NP_001340129.1:p.Tyr532Cys
NR_148391.1:n.2101A>G
NR_148392.1:n.2319A>G
NR_148393.1:n.2240A>G
NR_148394.1:n.1994A>G
NR_148395.1:n.2392A>G
NR_148396.1:n.2026A>G
NR_148397.1:n.2151A>G
NR_148398.1:n.2106A>G
NR_148399.1:n.2632A>G
NR_148400.1:n.2231A>G
XM_005272162.3:c.920A>G	XP_005272219.1:p.Tyr307Cys
XM_006716932.2:c.1766A>G	XP_006716995.1:p.Tyr589Cys
XM_011518140.2:c.1970A>G	XP_011516442.1:p.Tyr657Cys
XM_011518141.2:c.1904A>G	XP_011516443.1:p.Tyr635Cys
XM_011518142.2:c.1808A>G	XP_011516444.1:p.Tyr603Cys
XM_011518143.2:c.1802A>G	XP_011516445.1:p.Tyr601Cys
XM_011518145.2:c.1661A>G	XP_011516447.1:p.Tyr554Cys
XM_017014205.2:c.920A>G	XP_016869694.1:p.Tyr307Cys
XM_024447380.1:c.920A>G	XP_024303148.1:p.Tyr307Cys
XM_024447381.1:c.1226A>G	XP_024303149.1:p.Tyr409Cys
XM_024447382.1:c.920A>G	XP_024303150.1:p.Tyr307Cys
XR_001746160.2:n.2221A>G
XR_001746162.2:n.2426A>G
XR_001746164.1:n.2143A>G
XR_001746166.2:n.2438A>G
NM_001077365.2:c.2051A>G MANE Select	NP_001070833.1:p.Tyr684Cys
NM_001077366.2:c.1889A>G	NP_001070834.1:p.Tyr630Cys
NM_001136113.2:c.2051A>G	NP_001129585.1:p.Tyr684Cys
NM_001136114.2:c.1700A>G	NP_001129586.1:p.Tyr567Cys
NM_001353193.2:c.2117A>G	NP_001340122.2:p.Tyr706Cys
NM_001353194.2:c.1889A>G	NP_001340123.1:p.Tyr630Cys
NM_001353195.2:c.1700A>G	NP_001340124.1:p.Tyr567Cys
NM_001353196.2:c.1961A>G	NP_001340125.1:p.Tyr654Cys
NM_001353197.2:c.1955A>G	NP_001340126.2:p.Tyr652Cys
NM_001353198.2:c.1955A>G	NP_001340127.2:p.Tyr652Cys
NM_001353199.2:c.1766A>G	NP_001340128.2:p.Tyr589Cys
NM_001353200.2:c.1595A>G	NP_001340129.1:p.Tyr532Cys
NM_001374689.1:c.2039A>G	NP_001361618.1:p.Tyr680Cys
NM_001374690.1:c.1832A>G	NP_001361619.1:p.Tyr611Cys
NM_001374691.1:c.1700A>G	NP_001361620.1:p.Tyr567Cys
NM_001374692.1:c.1700A>G	NP_001361621.1:p.Tyr567Cys
NM_001374693.1:c.1700A>G	NP_001361622.1:p.Tyr567Cys
NM_001374695.1:c.1661A>G	NP_001361624.1:p.Tyr554Cys
NM_007171.4:c.2117A>G	NP_009102.4:p.Tyr706Cys
NR_148391.2:n.2085A>G
NR_148392.2:n.2303A>G
NR_148393.2:n.2224A>G
NR_148394.2:n.1978A>G
NR_148395.2:n.2376A>G
NR_148396.2:n.2010A>G
NR_148397.2:n.2135A>G
NR_148398.2:n.2090A>G
NR_148399.2:n.2616A>G
NR_148400.2:n.2215A>G