Canonical Allele Identifier: CA4465075

Gene: POT1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124829293C>T , CM000669.2:g.124829293C>T	GRCh38
NC_000007.13:g.124469347C>T , CM000669.1:g.124469347C>T	GRCh37
NC_000007.12:g.124256583C>T	NCBI36
NG_029232.1:g.105691G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357628.8:c.1555G>A MANE Select	ENSP00000350249.3:p.Val519Ile
ENST00000430927.6:c.1506-1988G>A	ENSP00000397632.2:n.1506-1988G>A
ENST00000653241.1:c.1555G>A	ENSP00000499476.1:p.Val519Ile
ENST00000653274.1:c.1555G>A	ENSP00000499382.1:p.Val519Ile
ENST00000653819.1:c.*1286G>A	ENSP00000499533.1:n.*1286G>A
ENST00000653892.1:c.*1197G>A	ENSP00000499506.1:n.*1197G>A
ENST00000654766.1:c.1370-1988G>A	ENSP00000499395.1:n.1370-1988G>A
ENST00000655761.1:c.1555G>A	ENSP00000499635.1:p.Val519Ile
ENST00000657333.1:c.*1194-1988G>A	ENSP00000499425.1:n.*1194-1988G>A
ENST00000657892.1:c.*1424G>A	ENSP00000499524.1:n.*1424G>A
ENST00000661898.1:c.1506-1719G>A	ENSP00000499528.1:n.1506-1719G>A
ENST00000662531.1:c.*1450G>A	ENSP00000499488.1:n.*1450G>A
ENST00000664330.1:c.*1406G>A	ENSP00000499781.1:n.*1406G>A
ENST00000664366.1:c.1555G>A	ENSP00000499290.1:p.Val519Ile
ENST00000668382.1:c.1555G>A	ENSP00000499546.1:p.Val519Ile
ENST00000357628.7:c.1555G>A	ENSP00000350249.3:p.Val519Ile
ENST00000393329.5:c.1162G>A	ENSP00000377002.1:p.Val388Ile
ENST00000436534.5:c.50G>A
ENST00000607932.5:c.1506-1988G>A	ENSP00000476506.1:n.1506-1988G>A
ENST00000608057.5:c.*652G>A	ENSP00000476371.1:n.*652G>A
ENST00000609106.5:c.1555G>A	ENSP00000476981.1:p.Val519Ile
NM_001042594.1:c.1162G>A	NP_001036059.1:p.Val388Ile
NM_015450.2:c.1555G>A	NP_056265.2:p.Val519Ile
NR_003102.1:n.2276G>A
NR_003103.1:n.2107-1988G>A
NR_003104.1:n.2253G>A
XM_006715917.2:c.1555G>A	XP_006715980.1:p.Val519Ile
XM_011516006.1:c.1162G>A	XP_011514308.1:p.Val388Ile
XM_011516007.1:c.1162G>A	XP_011514309.1:p.Val388Ile
XM_006715917.4:c.1555G>A	XP_006715980.1:p.Val519Ile
XM_017011942.2:c.1162G>A	XP_016867431.1:p.Val388Ile
XR_001744618.1:n.2097-1988G>A
XR_001744619.2:n.1966-1988G>A
NM_015450.3:c.1555G>A MANE Select	NP_056265.2:p.Val519Ile
NM_001042594.2:c.1162G>A	NP_001036059.1:p.Val388Ile
NR_003102.2:n.2118G>A
NR_003103.2:n.1949-1988G>A
NR_003104.2:n.2095G>A