Canonical Allele Identifier: CA166079829

Gene: POT1

Linked Data

• ClinVar Variation Id: 475073
• ClinVar RCV Id: RCV000547634 ; RCV001015233 ; RCV001535605 ; RCV001755899 ; RCV001821629 ; RCV003329305
• dbSNP Id: rs947005337
• gnomAD v2: 7-124510987-A-G
• gnomAD v3: 7-124870933-A-G
• gnomAD v4: 7-124870933-A-G
• COSMIC: COSM116403
• MyVariant Identifiers: chr7:g.124510987A>G (hg19) ; chr7:g.124870933A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124870933A>G , CM000669.2:g.124870933A>G	GRCh38
NC_000007.13:g.124510987A>G , CM000669.1:g.124510987A>G	GRCh37
NC_000007.12:g.124298223A>G	NCBI36
NG_029232.1:g.64051T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357628.8:c.233T>C MANE Select	ENSP00000350249.3:p.Ile78Thr
ENST00000429326.6:c.125-7293T>C	ENSP00000403088.1:n.125-7293T>C
ENST00000430927.6:c.233T>C	ENSP00000397632.2:p.Ile78Thr
ENST00000446993.6:c.-161T>C	ENSP00000388921.2:n.-161T>C
ENST00000653241.1:c.233T>C	ENSP00000499476.1:p.Ile78Thr
ENST00000653274.1:c.233T>C	ENSP00000499382.1:p.Ile78Thr
ENST00000653819.1:c.125-7293T>C	ENSP00000499533.1:n.125-7293T>C
ENST00000653892.1:c.125-7293T>C	ENSP00000499506.1:n.125-7293T>C
ENST00000654766.1:c.233T>C	ENSP00000499395.1:p.Ile78Thr
ENST00000655761.1:c.233T>C	ENSP00000499635.1:p.Ile78Thr
ENST00000657333.1:c.125-7293T>C	ENSP00000499425.1:n.125-7293T>C
ENST00000657892.1:c.125-5634T>C	ENSP00000499524.1:n.125-5634T>C
ENST00000661898.1:c.233T>C	ENSP00000499528.1:p.Ile78Thr
ENST00000662531.1:c.*128T>C	ENSP00000499488.1:n.*128T>C
ENST00000664330.1:c.125-7293T>C	ENSP00000499781.1:n.125-7293T>C
ENST00000664366.1:c.233T>C	ENSP00000499290.1:p.Ile78Thr
ENST00000668382.1:c.233T>C	ENSP00000499546.1:p.Ile78Thr
ENST00000357628.7:c.233T>C	ENSP00000350249.3:p.Ile78Thr
ENST00000393329.5:c.-138-7293T>C	ENSP00000377002.1:n.-138-7293T>C
ENST00000429326.5:c.125-7293T>C	ENSP00000403088.1:n.125-7293T>C
ENST00000446993.5:c.233T>C	ENSP00000388921.1:p.Ile78Thr
ENST00000607932.5:c.233T>C	ENSP00000476506.1:p.Ile78Thr
ENST00000608057.5:c.233T>C	ENSP00000476371.1:p.Ile78Thr
ENST00000609106.5:c.233T>C	ENSP00000476981.1:p.Ile78Thr
NM_001042594.1:c.-138-7293T>C	NP_001036059.1:n.-138-7293T>C
NM_015450.2:c.233T>C	NP_056265.2:p.Ile78Thr
NR_003102.1:n.834T>C
NR_003103.1:n.834T>C
NR_003104.1:n.834T>C
XM_006715917.2:c.233T>C	XP_006715980.1:p.Ile78Thr
XM_011516006.1:c.-161T>C	XP_011514308.1:n.-161T>C
XM_011516007.1:c.-161T>C	XP_011514309.1:n.-161T>C
XM_006715917.4:c.233T>C	XP_006715980.1:p.Ile78Thr
XM_017011942.2:c.-138-7293T>C	XP_016867431.1:n.-138-7293T>C
XR_001744618.1:n.824T>C
XR_001744619.2:n.716-7293T>C
NM_015450.3:c.233T>C MANE Select	NP_056265.2:p.Ile78Thr
NM_001042594.2:c.-138-7293T>C	NP_001036059.1:n.-138-7293T>C
NR_003102.2:n.676T>C
NR_003103.2:n.676T>C
NR_003104.2:n.676T>C