Canonical Allele Identifier: CA4464962

Gene: POT1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124824057C>T , CM000669.2:g.124824057C>T	GRCh38
NC_000007.13:g.124464111C>T , CM000669.1:g.124464111C>T	GRCh37
NC_000007.12:g.124251347C>T	NCBI36
NG_029232.1:g.110927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357628.8:c.1810G>A MANE Select	ENSP00000350249.3:p.Glu604Lys
ENST00000430927.6:c.*164G>A	ENSP00000397632.2:n.*164G>A
ENST00000653241.1:c.1810G>A	ENSP00000499476.1:p.Glu604Lys
ENST00000653274.1:c.*189G>A	ENSP00000499382.1:n.*189G>A
ENST00000653819.1:c.*1541G>A	ENSP00000499533.1:n.*1541G>A
ENST00000653892.1:c.*1452G>A	ENSP00000499506.1:n.*1452G>A
ENST00000654766.1:c.1585G>A	ENSP00000499395.1:p.Glu529Lys
ENST00000655761.1:c.1810G>A	ENSP00000499635.1:p.Glu604Lys
ENST00000657333.1:c.*1409G>A	ENSP00000499425.1:n.*1409G>A
ENST00000657892.1:c.*1679G>A	ENSP00000499524.1:n.*1679G>A
ENST00000661898.1:c.*274G>A	ENSP00000499528.1:n.*274G>A
ENST00000662531.1:c.*1705G>A	ENSP00000499488.1:n.*1705G>A
ENST00000664330.1:c.*1661G>A	ENSP00000499781.1:n.*1661G>A
ENST00000664366.1:c.1810G>A	ENSP00000499290.1:p.Glu604Lys
ENST00000668382.1:c.1810G>A	ENSP00000499546.1:p.Glu604Lys
ENST00000357628.7:c.1810G>A	ENSP00000350249.3:p.Glu604Lys
ENST00000393329.5:c.1417G>A	ENSP00000377002.1:p.Glu473Lys
ENST00000430927.5:c.161G>A
ENST00000436534.5:c.305G>A
ENST00000607932.5:c.*164G>A	ENSP00000476506.1:n.*164G>A
ENST00000608057.5:c.*907G>A	ENSP00000476371.1:n.*907G>A
ENST00000609106.5:c.*80G>A	ENSP00000476981.1:n.*80G>A
NM_001042594.1:c.1417G>A	NP_001036059.1:p.Glu473Lys
NM_015450.2:c.1810G>A	NP_056265.2:p.Glu604Lys
NR_003102.1:n.2531G>A
NR_003103.1:n.2322G>A
NR_003104.1:n.2508G>A
XM_006715917.2:c.1810G>A	XP_006715980.1:p.Glu604Lys
XM_011516006.1:c.1417G>A	XP_011514308.1:p.Glu473Lys
XM_011516007.1:c.1417G>A	XP_011514309.1:p.Glu473Lys
XM_006715917.4:c.1810G>A	XP_006715980.1:p.Glu604Lys
XM_017011942.2:c.1417G>A	XP_016867431.1:p.Glu473Lys
XR_001744618.1:n.2312G>A
XR_001744619.2:n.2181G>A
NM_015450.3:c.1810G>A MANE Select	NP_056265.2:p.Glu604Lys
NM_001042594.2:c.1417G>A	NP_001036059.1:p.Glu473Lys
NR_003102.2:n.2373G>A
NR_003103.2:n.2164G>A
NR_003104.2:n.2350G>A