Canonical Allele Identifier: CA369064456

Gene: POT1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124829289T>C , CM000669.2:g.124829289T>C	GRCh38
NC_000007.13:g.124469343T>C , CM000669.1:g.124469343T>C	GRCh37
NC_000007.12:g.124256579T>C	NCBI36
NG_029232.1:g.105695A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015450.3:c.1559A>G MANE Select	NP_056265.2:p.Asp520Gly
ENST00000357628.8:c.1559A>G MANE Select	ENSP00000350249.3:p.Asp520Gly
NM_001042594.1:c.1166A>G	NP_001036059.1:p.Asp389Gly
NM_001042594.2:c.1166A>G	NP_001036059.1:p.Asp389Gly
NM_015450.2:c.1559A>G	NP_056265.2:p.Asp520Gly
NR_003102.1:n.2280A>G
NR_003102.2:n.2122A>G
NR_003103.1:n.2107-1984A>G
NR_003103.2:n.1949-1984A>G
NR_003104.1:n.2257A>G
NR_003104.2:n.2099A>G
ENST00000357628.7:c.1559A>G	ENSP00000350249.3:p.Asp520Gly
ENST00000393329.5:c.1166A>G	ENSP00000377002.1:p.Asp389Gly
ENST00000430927.6:c.1506-1984A>G	ENSP00000397632.2:n.1506-1984A>G
ENST00000436534.5:c.54A>G
ENST00000607932.5:c.1506-1984A>G	ENSP00000476506.1:n.1506-1984A>G
ENST00000608057.5:c.*656A>G	ENSP00000476371.1:n.*656A>G
ENST00000609106.5:c.1559A>G	ENSP00000476981.1:p.Asp520Gly
ENST00000653241.1:c.1559A>G	ENSP00000499476.1:p.Asp520Gly
ENST00000653274.1:c.1559A>G	ENSP00000499382.1:p.Asp520Gly
ENST00000653819.1:c.*1290A>G	ENSP00000499533.1:n.*1290A>G
ENST00000653892.1:c.*1201A>G	ENSP00000499506.1:n.*1201A>G
ENST00000654766.1:c.1370-1984A>G	ENSP00000499395.1:n.1370-1984A>G
ENST00000655761.1:c.1559A>G	ENSP00000499635.1:p.Asp520Gly
ENST00000657333.1:c.*1194-1984A>G	ENSP00000499425.1:n.*1194-1984A>G
ENST00000657892.1:c.*1428A>G	ENSP00000499524.1:n.*1428A>G
ENST00000661898.1:c.1506-1715A>G	ENSP00000499528.1:n.1506-1715A>G
ENST00000662531.1:c.*1454A>G	ENSP00000499488.1:n.*1454A>G
ENST00000664330.1:c.*1410A>G	ENSP00000499781.1:n.*1410A>G
ENST00000664366.1:c.1559A>G	ENSP00000499290.1:p.Asp520Gly
ENST00000668382.1:c.1559A>G	ENSP00000499546.1:p.Asp520Gly
XM_006715917.2:c.1559A>G	XP_006715980.1:p.Asp520Gly
XM_006715917.4:c.1559A>G	XP_006715980.1:p.Asp520Gly
XM_011516006.1:c.1166A>G	XP_011514308.1:p.Asp389Gly
XM_011516007.1:c.1166A>G	XP_011514309.1:p.Asp389Gly
XM_017011942.2:c.1166A>G	XP_016867431.1:p.Asp389Gly
XR_001744618.1:n.2097-1984A>G
XR_001744619.2:n.1966-1984A>G