Canonical Allele Identifier: CA375314480

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1696906
• ClinVar RCV Id: RCV002267252
• dbSNP Id: rs2131922603
• gnomAD v4: 9-131522146-A-G
• MyVariant Identifiers: chr9:g.134397533A>G (hg19) ; chr9:g.131522146A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522146A>G , CM000671.2:g.131522146A>G	GRCh38
NC_000009.11:g.134397533A>G , CM000671.1:g.134397533A>G	GRCh37
NC_000009.10:g.133387354A>G	NCBI36
NG_008896.1:g.24245A>G
NG_008896.2:g.24245A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1763A>G	ENSP00000343034.7:p.Tyr588Cys
ENST00000404875.7:n.2465A>G
ENST00000423007.6:c.1982A>G	ENSP00000404119.2:p.Tyr661Cys
ENST00000677295.2:c.*2269A>G	ENSP00000504346.2:n.*2269A>G
ENST00000678264.2:c.*2108A>G	ENSP00000503157.2:n.*2108A>G
ENST00000682070.1:n.2291-56A>G
ENST00000682813.1:n.2329A>G
ENST00000683392.1:n.4573-56A>G
ENST00000683712.1:n.2330A>G
ENST00000683900.1:n.3825A>G
ENST00000684062.1:n.2591A>G
ENST00000684579.1:n.3771A>G
ENST00000684679.1:n.1152A>G
ENST00000341012.12:c.1763A>G	ENSP00000343034.7:p.Tyr588Cys
ENST00000372220.5:c.794A>G	ENSP00000361294.5:p.Tyr265Cys
ENST00000372228.9:c.1991A>G	ENSP00000361302.3:p.Tyr664Cys
ENST00000402686.8:c.1925A>G MANE Select	ENSP00000385797.4:p.Tyr642Cys
ENST00000676640.1:c.1925A>G	ENSP00000503281.1:p.Tyr642Cys
ENST00000676803.1:c.986A>G	ENSP00000503093.1:p.Tyr329Cys
ENST00000676835.1:c.*1140A>G	ENSP00000502911.1:n.*1140A>G
ENST00000677029.1:c.1469A>G	ENSP00000502936.1:p.Tyr490Cys
ENST00000677099.1:c.*1635A>G	ENSP00000504553.1:n.*1635A>G
ENST00000677216.1:c.1574A>G	ENSP00000503772.1:p.Tyr525Cys
ENST00000677221.1:n.950A>G
ENST00000677295.1:c.*1203-56A>G	ENSP00000504346.1:n.*1203-56A>G
ENST00000677444.1:c.1870A>G
ENST00000677586.1:n.1292A>G
ENST00000677626.1:c.1574A>G	ENSP00000503552.1:p.Tyr525Cys
ENST00000677853.1:c.*933A>G	ENSP00000503488.1:n.*933A>G
ENST00000678202.1:n.1084A>G
ENST00000678264.1:c.*1302A>G	ENSP00000503157.1:n.*1302A>G
ENST00000678303.1:c.1835A>G	ENSP00000503696.1:p.Tyr612Cys
ENST00000678366.1:c.*2174A>G	ENSP00000504353.1:n.*2174A>G
ENST00000678546.1:c.*1870A>G	ENSP00000503062.1:n.*1870A>G
ENST00000678548.1:c.*2064A>G	ENSP00000503934.1:n.*2064A>G
ENST00000678626.1:n.1761A>G
ENST00000678739.1:c.*2147-56A>G	ENSP00000503806.1:n.*2147-56A>G
ENST00000678833.1:c.*1677A>G	ENSP00000503893.1:n.*1677A>G
ENST00000679023.1:c.1763A>G	ENSP00000503718.1:p.Tyr588Cys
ENST00000679076.1:c.1544A>G
ENST00000679111.1:c.*681A>G	ENSP00000504257.1:n.*681A>G
ENST00000679189.1:c.1574A>G	ENSP00000503356.1:p.Tyr525Cys
ENST00000341012.11:c.1763A>G	ENSP00000343034.7:p.Tyr588Cys
ENST00000372220.4:c.788A>G	ENSP00000361294.4:p.Tyr263Cys
ENST00000372228.7:c.1991A>G	ENSP00000361302.3:p.Tyr664Cys
ENST00000402686.7:c.1925A>G	ENSP00000385797.3:p.Tyr642Cys
ENST00000404875.6:c.1574A>G	ENSP00000384531.2:p.Tyr525Cys
ENST00000423007.5:c.1925A>G	ENSP00000404119.1:p.Tyr642Cys
ENST00000485278.5:n.2475A>G
ENST00000494883.1:n.468A>G
NM_001077365.1:c.1925A>G	NP_001070833.1:p.Tyr642Cys
NM_001077366.1:c.1763A>G	NP_001070834.1:p.Tyr588Cys
NM_001136113.1:c.1925A>G	NP_001129585.1:p.Tyr642Cys
NM_001136114.1:c.1574A>G	NP_001129586.1:p.Tyr525Cys
NM_007171.3:c.1991A>G	NP_009102.3:p.Tyr664Cys
XM_005272156.1:c.1991A>G	XP_005272213.1:p.Tyr664Cys
XM_005272158.1:c.1829A>G	XP_005272215.1:p.Tyr610Cys
XM_005272159.1:c.1640A>G	XP_005272216.1:p.Tyr547Cys
XM_005272162.1:c.794A>G	XP_005272219.1:p.Tyr265Cys
XM_006716932.1:c.1640A>G	XP_006716995.1:p.Tyr547Cys
XM_011518140.1:c.1844A>G	XP_011516442.1:p.Tyr615Cys
XM_011518141.1:c.1778A>G	XP_011516443.1:p.Tyr593Cys
XM_011518142.1:c.1682A>G	XP_011516444.1:p.Tyr561Cys
XM_011518143.1:c.1676A>G	XP_011516445.1:p.Tyr559Cys
XM_011518145.1:c.1535A>G	XP_011516447.1:p.Tyr512Cys
XM_011518147.1:c.863A>G	XP_011516449.1:p.Tyr288Cys
XR_929703.1:n.2167A>G
NM_001353193.1:c.1991A>G	NP_001340122.1:p.Tyr664Cys
NM_001353194.1:c.1763A>G	NP_001340123.1:p.Tyr588Cys
NM_001353195.1:c.1574A>G	NP_001340124.1:p.Tyr525Cys
NM_001353196.1:c.1835A>G	NP_001340125.1:p.Tyr612Cys
NM_001353197.1:c.1829A>G	NP_001340126.1:p.Tyr610Cys
NM_001353198.1:c.1829A>G	NP_001340127.1:p.Tyr610Cys
NM_001353199.1:c.1640A>G	NP_001340128.1:p.Tyr547Cys
NM_001353200.1:c.1469A>G	NP_001340129.1:p.Tyr490Cys
NR_148391.1:n.1975A>G
NR_148392.1:n.2193A>G
NR_148393.1:n.2114A>G
NR_148394.1:n.1868A>G
NR_148395.1:n.2266A>G
NR_148396.1:n.1900A>G
NR_148397.1:n.2025A>G
NR_148398.1:n.1980A>G
NR_148399.1:n.2506A>G
NR_148400.1:n.2105A>G
XM_005272162.3:c.794A>G	XP_005272219.1:p.Tyr265Cys
XM_006716932.2:c.1640A>G	XP_006716995.1:p.Tyr547Cys
XM_011518140.2:c.1844A>G	XP_011516442.1:p.Tyr615Cys
XM_011518141.2:c.1778A>G	XP_011516443.1:p.Tyr593Cys
XM_011518142.2:c.1682A>G	XP_011516444.1:p.Tyr561Cys
XM_011518143.2:c.1676A>G	XP_011516445.1:p.Tyr559Cys
XM_011518145.2:c.1535A>G	XP_011516447.1:p.Tyr512Cys
XM_017014205.2:c.794A>G	XP_016869694.1:p.Tyr265Cys
XM_024447380.1:c.794A>G	XP_024303148.1:p.Tyr265Cys
XM_024447381.1:c.1100A>G	XP_024303149.1:p.Tyr367Cys
XM_024447382.1:c.794A>G	XP_024303150.1:p.Tyr265Cys
XR_001746160.2:n.2095A>G
XR_001746162.2:n.2300A>G
XR_001746164.1:n.2017A>G
XR_001746166.2:n.2312A>G
NM_001077365.2:c.1925A>G MANE Select	NP_001070833.1:p.Tyr642Cys
NM_001077366.2:c.1763A>G	NP_001070834.1:p.Tyr588Cys
NM_001136113.2:c.1925A>G	NP_001129585.1:p.Tyr642Cys
NM_001136114.2:c.1574A>G	NP_001129586.1:p.Tyr525Cys
NM_001353193.2:c.1991A>G	NP_001340122.2:p.Tyr664Cys
NM_001353194.2:c.1763A>G	NP_001340123.1:p.Tyr588Cys
NM_001353195.2:c.1574A>G	NP_001340124.1:p.Tyr525Cys
NM_001353196.2:c.1835A>G	NP_001340125.1:p.Tyr612Cys
NM_001353197.2:c.1829A>G	NP_001340126.2:p.Tyr610Cys
NM_001353198.2:c.1829A>G	NP_001340127.2:p.Tyr610Cys
NM_001353199.2:c.1640A>G	NP_001340128.2:p.Tyr547Cys
NM_001353200.2:c.1469A>G	NP_001340129.1:p.Tyr490Cys
NM_001374689.1:c.1913A>G	NP_001361618.1:p.Tyr638Cys
NM_001374690.1:c.1706A>G	NP_001361619.1:p.Tyr569Cys
NM_001374691.1:c.1574A>G	NP_001361620.1:p.Tyr525Cys
NM_001374692.1:c.1574A>G	NP_001361621.1:p.Tyr525Cys
NM_001374693.1:c.1574A>G	NP_001361622.1:p.Tyr525Cys
NM_001374695.1:c.1535A>G	NP_001361624.1:p.Tyr512Cys
NM_007171.4:c.1991A>G	NP_009102.4:p.Tyr664Cys
NR_148391.2:n.1959A>G
NR_148392.2:n.2177A>G
NR_148393.2:n.2098A>G
NR_148394.2:n.1852A>G
NR_148395.2:n.2250A>G
NR_148396.2:n.1884A>G
NR_148397.2:n.2009A>G
NR_148398.2:n.1964A>G
NR_148399.2:n.2490A>G
NR_148400.2:n.2089A>G