Canonical Allele Identifier: CA375314345

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397499C>T (hg19) ; chr9:g.131522112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522112C>T , CM000671.2:g.131522112C>T	GRCh38
NC_000009.11:g.134397499C>T , CM000671.1:g.134397499C>T	GRCh37
NC_000009.10:g.133387320C>T	NCBI36
NG_008896.1:g.24211C>T
NG_008896.2:g.24211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1729C>T	ENSP00000343034.7:p.Pro577Ser
ENST00000404875.7:n.2431C>T
ENST00000423007.6:c.1948C>T	ENSP00000404119.2:p.Pro650Ser
ENST00000677295.2:c.*2235C>T	ENSP00000504346.2:n.*2235C>T
ENST00000678264.2:c.*2074C>T	ENSP00000503157.2:n.*2074C>T
ENST00000682070.1:n.2291-90C>T
ENST00000682813.1:n.2295C>T
ENST00000683392.1:n.4573-90C>T
ENST00000683712.1:n.2296C>T
ENST00000683900.1:n.3791C>T
ENST00000684062.1:n.2557C>T
ENST00000684579.1:n.3737C>T
ENST00000684679.1:n.1118C>T
ENST00000341012.12:c.1729C>T	ENSP00000343034.7:p.Pro577Ser
ENST00000372220.5:c.760C>T	ENSP00000361294.5:p.Pro254Ser
ENST00000372228.9:c.1957C>T	ENSP00000361302.3:p.Pro653Ser
ENST00000402686.8:c.1891C>T MANE Select	ENSP00000385797.4:p.Pro631Ser
ENST00000676640.1:c.1891C>T	ENSP00000503281.1:p.Pro631Ser
ENST00000676803.1:c.952C>T	ENSP00000503093.1:p.Pro318Ser
ENST00000676835.1:c.*1106C>T	ENSP00000502911.1:n.*1106C>T
ENST00000677029.1:c.1435C>T	ENSP00000502936.1:p.Pro479Ser
ENST00000677099.1:c.*1601C>T	ENSP00000504553.1:n.*1601C>T
ENST00000677216.1:c.1540C>T	ENSP00000503772.1:p.Pro514Ser
ENST00000677221.1:n.916C>T
ENST00000677295.1:c.*1203-90C>T	ENSP00000504346.1:n.*1203-90C>T
ENST00000677444.1:c.1836C>T
ENST00000677586.1:n.1258C>T
ENST00000677626.1:c.1540C>T	ENSP00000503552.1:p.Pro514Ser
ENST00000677853.1:c.*899C>T	ENSP00000503488.1:n.*899C>T
ENST00000678202.1:n.1050C>T
ENST00000678264.1:c.*1268C>T	ENSP00000503157.1:n.*1268C>T
ENST00000678303.1:c.1801C>T	ENSP00000503696.1:p.Pro601Ser
ENST00000678366.1:c.*2140C>T	ENSP00000504353.1:n.*2140C>T
ENST00000678546.1:c.*1836C>T	ENSP00000503062.1:n.*1836C>T
ENST00000678548.1:c.*2030C>T	ENSP00000503934.1:n.*2030C>T
ENST00000678626.1:n.1727C>T
ENST00000678739.1:c.*2147-90C>T	ENSP00000503806.1:n.*2147-90C>T
ENST00000678833.1:c.*1643C>T	ENSP00000503893.1:n.*1643C>T
ENST00000679023.1:c.1729C>T	ENSP00000503718.1:p.Pro577Ser
ENST00000679076.1:c.1510C>T
ENST00000679111.1:c.*647C>T	ENSP00000504257.1:n.*647C>T
ENST00000679189.1:c.1540C>T	ENSP00000503356.1:p.Pro514Ser
ENST00000341012.11:c.1729C>T	ENSP00000343034.7:p.Pro577Ser
ENST00000372220.4:c.754C>T	ENSP00000361294.4:p.Pro252Ser
ENST00000372228.7:c.1957C>T	ENSP00000361302.3:p.Pro653Ser
ENST00000402686.7:c.1891C>T	ENSP00000385797.3:p.Pro631Ser
ENST00000404875.6:c.1540C>T	ENSP00000384531.2:p.Pro514Ser
ENST00000423007.5:c.1891C>T	ENSP00000404119.1:p.Pro631Ser
ENST00000485278.5:n.2441C>T
ENST00000494883.1:n.434C>T
NM_001077365.1:c.1891C>T	NP_001070833.1:p.Pro631Ser
NM_001077366.1:c.1729C>T	NP_001070834.1:p.Pro577Ser
NM_001136113.1:c.1891C>T	NP_001129585.1:p.Pro631Ser
NM_001136114.1:c.1540C>T	NP_001129586.1:p.Pro514Ser
NM_007171.3:c.1957C>T	NP_009102.3:p.Pro653Ser
XM_005272156.1:c.1957C>T	XP_005272213.1:p.Pro653Ser
XM_005272158.1:c.1795C>T	XP_005272215.1:p.Pro599Ser
XM_005272159.1:c.1606C>T	XP_005272216.1:p.Pro536Ser
XM_005272162.1:c.760C>T	XP_005272219.1:p.Pro254Ser
XM_006716932.1:c.1606C>T	XP_006716995.1:p.Pro536Ser
XM_011518140.1:c.1810C>T	XP_011516442.1:p.Pro604Ser
XM_011518141.1:c.1744C>T	XP_011516443.1:p.Pro582Ser
XM_011518142.1:c.1648C>T	XP_011516444.1:p.Pro550Ser
XM_011518143.1:c.1642C>T	XP_011516445.1:p.Pro548Ser
XM_011518145.1:c.1501C>T	XP_011516447.1:p.Pro501Ser
XM_011518147.1:c.829C>T	XP_011516449.1:p.Pro277Ser
XR_929703.1:n.2133C>T
NM_001353193.1:c.1957C>T	NP_001340122.1:p.Pro653Ser
NM_001353194.1:c.1729C>T	NP_001340123.1:p.Pro577Ser
NM_001353195.1:c.1540C>T	NP_001340124.1:p.Pro514Ser
NM_001353196.1:c.1801C>T	NP_001340125.1:p.Pro601Ser
NM_001353197.1:c.1795C>T	NP_001340126.1:p.Pro599Ser
NM_001353198.1:c.1795C>T	NP_001340127.1:p.Pro599Ser
NM_001353199.1:c.1606C>T	NP_001340128.1:p.Pro536Ser
NM_001353200.1:c.1435C>T	NP_001340129.1:p.Pro479Ser
NR_148391.1:n.1941C>T
NR_148392.1:n.2159C>T
NR_148393.1:n.2080C>T
NR_148394.1:n.1834C>T
NR_148395.1:n.2232C>T
NR_148396.1:n.1866C>T
NR_148397.1:n.1991C>T
NR_148398.1:n.1946C>T
NR_148399.1:n.2472C>T
NR_148400.1:n.2071C>T
XM_005272162.3:c.760C>T	XP_005272219.1:p.Pro254Ser
XM_006716932.2:c.1606C>T	XP_006716995.1:p.Pro536Ser
XM_011518140.2:c.1810C>T	XP_011516442.1:p.Pro604Ser
XM_011518141.2:c.1744C>T	XP_011516443.1:p.Pro582Ser
XM_011518142.2:c.1648C>T	XP_011516444.1:p.Pro550Ser
XM_011518143.2:c.1642C>T	XP_011516445.1:p.Pro548Ser
XM_011518145.2:c.1501C>T	XP_011516447.1:p.Pro501Ser
XM_017014205.2:c.760C>T	XP_016869694.1:p.Pro254Ser
XM_024447380.1:c.760C>T	XP_024303148.1:p.Pro254Ser
XM_024447381.1:c.1066C>T	XP_024303149.1:p.Pro356Ser
XM_024447382.1:c.760C>T	XP_024303150.1:p.Pro254Ser
XR_001746160.2:n.2061C>T
XR_001746162.2:n.2266C>T
XR_001746164.1:n.1983C>T
XR_001746166.2:n.2278C>T
NM_001077365.2:c.1891C>T MANE Select	NP_001070833.1:p.Pro631Ser
NM_001077366.2:c.1729C>T	NP_001070834.1:p.Pro577Ser
NM_001136113.2:c.1891C>T	NP_001129585.1:p.Pro631Ser
NM_001136114.2:c.1540C>T	NP_001129586.1:p.Pro514Ser
NM_001353193.2:c.1957C>T	NP_001340122.2:p.Pro653Ser
NM_001353194.2:c.1729C>T	NP_001340123.1:p.Pro577Ser
NM_001353195.2:c.1540C>T	NP_001340124.1:p.Pro514Ser
NM_001353196.2:c.1801C>T	NP_001340125.1:p.Pro601Ser
NM_001353197.2:c.1795C>T	NP_001340126.2:p.Pro599Ser
NM_001353198.2:c.1795C>T	NP_001340127.2:p.Pro599Ser
NM_001353199.2:c.1606C>T	NP_001340128.2:p.Pro536Ser
NM_001353200.2:c.1435C>T	NP_001340129.1:p.Pro479Ser
NM_001374689.1:c.1879C>T	NP_001361618.1:p.Pro627Ser
NM_001374690.1:c.1672C>T	NP_001361619.1:p.Pro558Ser
NM_001374691.1:c.1540C>T	NP_001361620.1:p.Pro514Ser
NM_001374692.1:c.1540C>T	NP_001361621.1:p.Pro514Ser
NM_001374693.1:c.1540C>T	NP_001361622.1:p.Pro514Ser
NM_001374695.1:c.1501C>T	NP_001361624.1:p.Pro501Ser
NM_007171.4:c.1957C>T	NP_009102.4:p.Pro653Ser
NR_148391.2:n.1925C>T
NR_148392.2:n.2143C>T
NR_148393.2:n.2064C>T
NR_148394.2:n.1818C>T
NR_148395.2:n.2216C>T
NR_148396.2:n.1850C>T
NR_148397.2:n.1975C>T
NR_148398.2:n.1930C>T
NR_148399.2:n.2456C>T
NR_148400.2:n.2055C>T