Canonical Allele Identifier: CA4465119

Gene: POT1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124835343C>T , CM000669.2:g.124835343C>T	GRCh38
NC_000007.13:g.124475397C>T , CM000669.1:g.124475397C>T	GRCh37
NC_000007.12:g.124262633C>T	NCBI36
NG_029232.1:g.99641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357628.8:c.1441G>A MANE Select	ENSP00000350249.3:p.Glu481Lys
ENST00000430927.6:c.1441G>A	ENSP00000397632.2:p.Glu481Lys
ENST00000653241.1:c.1441G>A	ENSP00000499476.1:p.Glu481Lys
ENST00000653274.1:c.1441G>A	ENSP00000499382.1:p.Glu481Lys
ENST00000653819.1:c.*1172G>A	ENSP00000499533.1:n.*1172G>A
ENST00000653892.1:c.*1083G>A	ENSP00000499506.1:n.*1083G>A
ENST00000654766.1:c.1369+5630G>A	ENSP00000499395.1:n.1369+5630G>A
ENST00000655761.1:c.1441G>A	ENSP00000499635.1:p.Glu481Lys
ENST00000657333.1:c.*1129G>A	ENSP00000499425.1:n.*1129G>A
ENST00000657892.1:c.*1310G>A	ENSP00000499524.1:n.*1310G>A
ENST00000661898.1:c.1441G>A	ENSP00000499528.1:p.Glu481Lys
ENST00000662531.1:c.*1336G>A	ENSP00000499488.1:n.*1336G>A
ENST00000664330.1:c.*1292G>A	ENSP00000499781.1:n.*1292G>A
ENST00000664366.1:c.1441G>A	ENSP00000499290.1:p.Glu481Lys
ENST00000668382.1:c.1441G>A	ENSP00000499546.1:p.Glu481Lys
ENST00000357628.7:c.1441G>A	ENSP00000350249.3:p.Glu481Lys
ENST00000393329.5:c.1048G>A	ENSP00000377002.1:p.Glu350Lys
ENST00000607932.5:c.1441G>A	ENSP00000476506.1:p.Glu481Lys
ENST00000608057.5:c.*538G>A	ENSP00000476371.1:n.*538G>A
ENST00000609106.5:c.1441G>A	ENSP00000476981.1:p.Glu481Lys
NM_001042594.1:c.1048G>A	NP_001036059.1:p.Glu350Lys
NM_015450.2:c.1441G>A	NP_056265.2:p.Glu481Lys
NR_003102.1:n.2162G>A
NR_003103.1:n.2042G>A
NR_003104.1:n.2139G>A
XM_006715917.2:c.1441G>A	XP_006715980.1:p.Glu481Lys
XM_011516006.1:c.1048G>A	XP_011514308.1:p.Glu350Lys
XM_011516007.1:c.1048G>A	XP_011514309.1:p.Glu350Lys
XM_006715917.4:c.1441G>A	XP_006715980.1:p.Glu481Lys
XM_017011942.2:c.1048G>A	XP_016867431.1:p.Glu350Lys
XR_001744618.1:n.2032G>A
XR_001744619.2:n.1901G>A
NM_015450.3:c.1441G>A MANE Select	NP_056265.2:p.Glu481Lys
NM_001042594.2:c.1048G>A	NP_001036059.1:p.Glu350Lys
NR_003102.2:n.2004G>A
NR_003103.2:n.1884G>A
NR_003104.2:n.1981G>A