Canonical Allele Identifier: CA375315287

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398428T>A (hg19) ; chr9:g.131523041T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523041T>A , CM000671.2:g.131523041T>A	GRCh38
NC_000009.11:g.134398428T>A , CM000671.1:g.134398428T>A	GRCh37
NC_000009.10:g.133388249T>A	NCBI36
NG_008896.1:g.25140T>A
NG_008896.2:g.25140T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1951T>A	ENSP00000343034.7:p.Ser651Thr
ENST00000404875.7:n.2653T>A
ENST00000423007.6:c.2170T>A	ENSP00000404119.2:p.Ser724Thr
ENST00000677295.2:c.*2457T>A	ENSP00000504346.2:n.*2457T>A
ENST00000678264.2:c.*2296T>A	ENSP00000503157.2:n.*2296T>A
ENST00000682070.1:n.2423T>A
ENST00000682639.1:c.110T>A
ENST00000682813.1:n.2510T>A
ENST00000683231.1:c.110T>A
ENST00000683392.1:n.4705T>A
ENST00000683712.1:n.2518T>A
ENST00000683900.1:n.4013T>A
ENST00000684062.1:n.2779T>A
ENST00000684399.1:c.110T>A
ENST00000684579.1:n.3959T>A
ENST00000341012.12:c.1951T>A	ENSP00000343034.7:p.Ser651Thr
ENST00000372220.5:c.982T>A	ENSP00000361294.5:p.Ser328Thr
ENST00000372228.9:c.2179T>A	ENSP00000361302.3:p.Ser727Thr
ENST00000402686.8:c.2113T>A MANE Select	ENSP00000385797.4:p.Ser705Thr
ENST00000676640.1:c.2113T>A	ENSP00000503281.1:p.Ser705Thr
ENST00000676803.1:c.1174T>A	ENSP00000503093.1:p.Ser392Thr
ENST00000676835.1:c.*1328T>A	ENSP00000502911.1:n.*1328T>A
ENST00000677029.1:c.1657T>A	ENSP00000502936.1:p.Ser553Thr
ENST00000677099.1:c.*1823T>A	ENSP00000504553.1:n.*1823T>A
ENST00000677216.1:c.1762T>A	ENSP00000503772.1:p.Ser588Thr
ENST00000677295.1:c.*1335T>A	ENSP00000504346.1:n.*1335T>A
ENST00000677444.1:c.2058T>A
ENST00000677586.1:n.1480T>A
ENST00000677626.1:c.1762T>A	ENSP00000503552.1:p.Ser588Thr
ENST00000677853.1:c.*1121T>A	ENSP00000503488.1:n.*1121T>A
ENST00000678264.1:c.*1490T>A	ENSP00000503157.1:n.*1490T>A
ENST00000678303.1:c.2023T>A	ENSP00000503696.1:p.Ser675Thr
ENST00000678366.1:c.*2362T>A	ENSP00000504353.1:n.*2362T>A
ENST00000678546.1:c.*2058T>A	ENSP00000503062.1:n.*2058T>A
ENST00000678548.1:c.*2252T>A	ENSP00000503934.1:n.*2252T>A
ENST00000678626.1:n.1949T>A
ENST00000678739.1:c.*2279T>A	ENSP00000503806.1:n.*2279T>A
ENST00000678833.1:c.*1865T>A	ENSP00000503893.1:n.*1865T>A
ENST00000679023.1:c.1951T>A	ENSP00000503718.1:p.Ser651Thr
ENST00000679076.1:c.1732T>A
ENST00000679111.1:c.*869T>A	ENSP00000504257.1:n.*869T>A
ENST00000679189.1:c.1762T>A	ENSP00000503356.1:p.Ser588Thr
ENST00000341012.11:c.1951T>A	ENSP00000343034.7:p.Ser651Thr
ENST00000372220.4:c.976T>A	ENSP00000361294.4:p.Ser326Thr
ENST00000372228.7:c.2179T>A	ENSP00000361302.3:p.Ser727Thr
ENST00000402686.7:c.2113T>A	ENSP00000385797.3:p.Ser705Thr
ENST00000404875.6:c.1762T>A	ENSP00000384531.2:p.Ser588Thr
ENST00000423007.5:c.2113T>A	ENSP00000404119.1:p.Ser705Thr
ENST00000485278.5:n.2663T>A
NM_001077365.1:c.2113T>A	NP_001070833.1:p.Ser705Thr
NM_001077366.1:c.1951T>A	NP_001070834.1:p.Ser651Thr
NM_001136113.1:c.2113T>A	NP_001129585.1:p.Ser705Thr
NM_001136114.1:c.1762T>A	NP_001129586.1:p.Ser588Thr
NM_007171.3:c.2179T>A	NP_009102.3:p.Ser727Thr
XM_005272156.1:c.2179T>A	XP_005272213.1:p.Ser727Thr
XM_005272158.1:c.2017T>A	XP_005272215.1:p.Ser673Thr
XM_005272159.1:c.1828T>A	XP_005272216.1:p.Ser610Thr
XM_005272162.1:c.982T>A	XP_005272219.1:p.Ser328Thr
XM_006716932.1:c.1828T>A	XP_006716995.1:p.Ser610Thr
XM_011518140.1:c.2032T>A	XP_011516442.1:p.Ser678Thr
XM_011518141.1:c.1966T>A	XP_011516443.1:p.Ser656Thr
XM_011518142.1:c.1870T>A	XP_011516444.1:p.Ser624Thr
XM_011518143.1:c.1864T>A	XP_011516445.1:p.Ser622Thr
XM_011518145.1:c.1723T>A	XP_011516447.1:p.Ser575Thr
XM_011518147.1:c.1051T>A	XP_011516449.1:p.Ser351Thr
XR_929703.1:n.2355T>A
NM_001353193.1:c.2179T>A	NP_001340122.1:p.Ser727Thr
NM_001353194.1:c.1951T>A	NP_001340123.1:p.Ser651Thr
NM_001353195.1:c.1762T>A	NP_001340124.1:p.Ser588Thr
NM_001353196.1:c.2023T>A	NP_001340125.1:p.Ser675Thr
NM_001353197.1:c.2017T>A	NP_001340126.1:p.Ser673Thr
NM_001353198.1:c.2017T>A	NP_001340127.1:p.Ser673Thr
NM_001353199.1:c.1828T>A	NP_001340128.1:p.Ser610Thr
NM_001353200.1:c.1657T>A	NP_001340129.1:p.Ser553Thr
NR_148391.1:n.2163T>A
NR_148392.1:n.2381T>A
NR_148393.1:n.2302T>A
NR_148394.1:n.2056T>A
NR_148395.1:n.2454T>A
NR_148396.1:n.2088T>A
NR_148397.1:n.2213T>A
NR_148398.1:n.2168T>A
NR_148399.1:n.2694T>A
NR_148400.1:n.2293T>A
XM_005272162.3:c.982T>A	XP_005272219.1:p.Ser328Thr
XM_006716932.2:c.1828T>A	XP_006716995.1:p.Ser610Thr
XM_011518140.2:c.2032T>A	XP_011516442.1:p.Ser678Thr
XM_011518141.2:c.1966T>A	XP_011516443.1:p.Ser656Thr
XM_011518142.2:c.1870T>A	XP_011516444.1:p.Ser624Thr
XM_011518143.2:c.1864T>A	XP_011516445.1:p.Ser622Thr
XM_011518145.2:c.1723T>A	XP_011516447.1:p.Ser575Thr
XM_017014205.2:c.982T>A	XP_016869694.1:p.Ser328Thr
XM_024447380.1:c.982T>A	XP_024303148.1:p.Ser328Thr
XM_024447381.1:c.1288T>A	XP_024303149.1:p.Ser430Thr
XM_024447382.1:c.982T>A	XP_024303150.1:p.Ser328Thr
XR_001746160.2:n.2283T>A
XR_001746162.2:n.2488T>A
XR_001746164.1:n.2205T>A
XR_001746166.2:n.2500T>A
NM_001077365.2:c.2113T>A MANE Select	NP_001070833.1:p.Ser705Thr
NM_001077366.2:c.1951T>A	NP_001070834.1:p.Ser651Thr
NM_001136113.2:c.2113T>A	NP_001129585.1:p.Ser705Thr
NM_001136114.2:c.1762T>A	NP_001129586.1:p.Ser588Thr
NM_001353193.2:c.2179T>A	NP_001340122.2:p.Ser727Thr
NM_001353194.2:c.1951T>A	NP_001340123.1:p.Ser651Thr
NM_001353195.2:c.1762T>A	NP_001340124.1:p.Ser588Thr
NM_001353196.2:c.2023T>A	NP_001340125.1:p.Ser675Thr
NM_001353197.2:c.2017T>A	NP_001340126.2:p.Ser673Thr
NM_001353198.2:c.2017T>A	NP_001340127.2:p.Ser673Thr
NM_001353199.2:c.1828T>A	NP_001340128.2:p.Ser610Thr
NM_001353200.2:c.1657T>A	NP_001340129.1:p.Ser553Thr
NM_001374689.1:c.2101T>A	NP_001361618.1:p.Ser701Thr
NM_001374690.1:c.1894T>A	NP_001361619.1:p.Ser632Thr
NM_001374691.1:c.1762T>A	NP_001361620.1:p.Ser588Thr
NM_001374692.1:c.1762T>A	NP_001361621.1:p.Ser588Thr
NM_001374693.1:c.1762T>A	NP_001361622.1:p.Ser588Thr
NM_001374695.1:c.1723T>A	NP_001361624.1:p.Ser575Thr
NM_007171.4:c.2179T>A	NP_009102.4:p.Ser727Thr
NR_148391.2:n.2147T>A
NR_148392.2:n.2365T>A
NR_148393.2:n.2286T>A
NR_148394.2:n.2040T>A
NR_148395.2:n.2438T>A
NR_148396.2:n.2072T>A
NR_148397.2:n.2197T>A
NR_148398.2:n.2152T>A
NR_148399.2:n.2678T>A
NR_148400.2:n.2277T>A