Canonical Allele Identifier: CA369061331

Gene: POT1

Linked Data

• ClinVar Variation Id: 2585771
• ClinVar RCV Id: RCV003338969
• MyVariant Identifiers: chr7:g.124510985C>T (hg19) ; chr7:g.124870931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124870931C>T , CM000669.2:g.124870931C>T	GRCh38
NC_000007.13:g.124510985C>T , CM000669.1:g.124510985C>T	GRCh37
NC_000007.12:g.124298221C>T	NCBI36
NG_029232.1:g.64053G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000357628.8:c.235G>A MANE Select	ENSP00000350249.3:p.Val79Ile
ENST00000429326.6:c.125-7291G>A	ENSP00000403088.1:n.125-7291G>A
ENST00000430927.6:c.235G>A	ENSP00000397632.2:p.Val79Ile
ENST00000446993.6:c.-159G>A	ENSP00000388921.2:n.-159G>A
ENST00000653241.1:c.235G>A	ENSP00000499476.1:p.Val79Ile
ENST00000653274.1:c.235G>A	ENSP00000499382.1:p.Val79Ile
ENST00000653819.1:c.125-7291G>A	ENSP00000499533.1:n.125-7291G>A
ENST00000653892.1:c.125-7291G>A	ENSP00000499506.1:n.125-7291G>A
ENST00000654766.1:c.235G>A	ENSP00000499395.1:p.Val79Ile
ENST00000655761.1:c.235G>A	ENSP00000499635.1:p.Val79Ile
ENST00000657333.1:c.125-7291G>A	ENSP00000499425.1:n.125-7291G>A
ENST00000657892.1:c.125-5632G>A	ENSP00000499524.1:n.125-5632G>A
ENST00000661898.1:c.235G>A	ENSP00000499528.1:p.Val79Ile
ENST00000662531.1:c.*130G>A	ENSP00000499488.1:n.*130G>A
ENST00000664330.1:c.125-7291G>A	ENSP00000499781.1:n.125-7291G>A
ENST00000664366.1:c.235G>A	ENSP00000499290.1:p.Val79Ile
ENST00000668382.1:c.235G>A	ENSP00000499546.1:p.Val79Ile
ENST00000357628.7:c.235G>A	ENSP00000350249.3:p.Val79Ile
ENST00000393329.5:c.-138-7291G>A	ENSP00000377002.1:n.-138-7291G>A
ENST00000429326.5:c.125-7291G>A	ENSP00000403088.1:n.125-7291G>A
ENST00000446993.5:c.235G>A	ENSP00000388921.1:p.Val79Ile
ENST00000607932.5:c.235G>A	ENSP00000476506.1:p.Val79Ile
ENST00000608057.5:c.235G>A	ENSP00000476371.1:p.Val79Ile
ENST00000609106.5:c.235G>A	ENSP00000476981.1:p.Val79Ile
NM_001042594.1:c.-138-7291G>A	NP_001036059.1:n.-138-7291G>A
NM_015450.2:c.235G>A	NP_056265.2:p.Val79Ile
NR_003102.1:n.836G>A
NR_003103.1:n.836G>A
NR_003104.1:n.836G>A
XM_006715917.2:c.235G>A	XP_006715980.1:p.Val79Ile
XM_011516006.1:c.-159G>A	XP_011514308.1:n.-159G>A
XM_011516007.1:c.-159G>A	XP_011514309.1:n.-159G>A
XM_006715917.4:c.235G>A	XP_006715980.1:p.Val79Ile
XM_017011942.2:c.-138-7291G>A	XP_016867431.1:n.-138-7291G>A
XR_001744618.1:n.826G>A
XR_001744619.2:n.716-7291G>A
NM_015450.3:c.235G>A MANE Select	NP_056265.2:p.Val79Ile
NM_001042594.2:c.-138-7291G>A	NP_001036059.1:n.-138-7291G>A
NR_003102.2:n.678G>A
NR_003103.2:n.678G>A
NR_003104.2:n.678G>A