Canonical Allele Identifier: CA369068573

Gene: POT1

Linked Data

• MyVariant Identifiers: chr7:g.124482992C>A (hg19) ; chr7:g.124842938C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124842938C>A , CM000669.2:g.124842938C>A	GRCh38
NC_000007.13:g.124482992C>A , CM000669.1:g.124482992C>A	GRCh37
NC_000007.12:g.124270228C>A	NCBI36
NG_029232.1:g.92046G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357628.8:c.1032G>T MANE Select	ENSP00000350249.3:p.Glu344Asp
ENST00000430927.6:c.1032G>T	ENSP00000397632.2:p.Glu344Asp
ENST00000446993.6:c.639G>T	ENSP00000388921.2:p.Glu213Asp
ENST00000653241.1:c.1032G>T	ENSP00000499476.1:p.Glu344Asp
ENST00000653274.1:c.1032G>T	ENSP00000499382.1:p.Glu344Asp
ENST00000653819.1:c.*763G>T	ENSP00000499533.1:n.*763G>T
ENST00000653892.1:c.*674G>T	ENSP00000499506.1:n.*674G>T
ENST00000654766.1:c.1032G>T	ENSP00000499395.1:p.Glu344Asp
ENST00000655761.1:c.1032G>T	ENSP00000499635.1:p.Glu344Asp
ENST00000657333.1:c.*763G>T	ENSP00000499425.1:n.*763G>T
ENST00000657892.1:c.*901G>T	ENSP00000499524.1:n.*901G>T
ENST00000661898.1:c.1032G>T	ENSP00000499528.1:p.Glu344Asp
ENST00000662531.1:c.*927G>T	ENSP00000499488.1:n.*927G>T
ENST00000664330.1:c.*883G>T	ENSP00000499781.1:n.*883G>T
ENST00000664366.1:c.1032G>T	ENSP00000499290.1:p.Glu344Asp
ENST00000668382.1:c.1032G>T	ENSP00000499546.1:p.Glu344Asp
ENST00000357628.7:c.1032G>T	ENSP00000350249.3:p.Glu344Asp
ENST00000393329.5:c.639G>T	ENSP00000377002.1:p.Glu213Asp
ENST00000466483.1:n.312G>T
ENST00000607932.5:c.1032G>T	ENSP00000476506.1:p.Glu344Asp
ENST00000608057.5:c.*129G>T	ENSP00000476371.1:n.*129G>T
ENST00000609106.5:c.1032G>T	ENSP00000476981.1:p.Glu344Asp
NM_001042594.1:c.639G>T	NP_001036059.1:p.Glu213Asp
NM_015450.2:c.1032G>T	NP_056265.2:p.Glu344Asp
NR_003102.1:n.1753G>T
NR_003103.1:n.1633G>T
NR_003104.1:n.1633G>T
XM_006715917.2:c.1032G>T	XP_006715980.1:p.Glu344Asp
XM_011516006.1:c.639G>T	XP_011514308.1:p.Glu213Asp
XM_011516007.1:c.639G>T	XP_011514309.1:p.Glu213Asp
XM_006715917.4:c.1032G>T	XP_006715980.1:p.Glu344Asp
XM_017011942.2:c.639G>T	XP_016867431.1:p.Glu213Asp
XR_001744618.1:n.1623G>T
XR_001744619.2:n.1492G>T
NM_015450.3:c.1032G>T MANE Select	NP_056265.2:p.Glu344Asp
NM_001042594.2:c.639G>T	NP_001036059.1:p.Glu213Asp
NR_003102.2:n.1595G>T
NR_003103.2:n.1475G>T
NR_003104.2:n.1475G>T