Canonical Allele Identifier: CA369068513

Gene: POT1

Linked Data

• MyVariant Identifiers: chr7:g.124482975G>C (hg19) ; chr7:g.124842921G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124842921G>C , CM000669.2:g.124842921G>C	GRCh38
NC_000007.13:g.124482975G>C , CM000669.1:g.124482975G>C	GRCh37
NC_000007.12:g.124270211G>C	NCBI36
NG_029232.1:g.92063C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357628.8:c.1049C>G MANE Select	ENSP00000350249.3:p.Ala350Gly
ENST00000430927.6:c.1049C>G	ENSP00000397632.2:p.Ala350Gly
ENST00000653241.1:c.1049C>G	ENSP00000499476.1:p.Ala350Gly
ENST00000653274.1:c.1049C>G	ENSP00000499382.1:p.Ala350Gly
ENST00000653819.1:c.*780C>G	ENSP00000499533.1:n.*780C>G
ENST00000653892.1:c.*691C>G	ENSP00000499506.1:n.*691C>G
ENST00000654766.1:c.1049C>G	ENSP00000499395.1:p.Ala350Gly
ENST00000655761.1:c.1049C>G	ENSP00000499635.1:p.Ala350Gly
ENST00000657333.1:c.*780C>G	ENSP00000499425.1:n.*780C>G
ENST00000657892.1:c.*918C>G	ENSP00000499524.1:n.*918C>G
ENST00000661898.1:c.1049C>G	ENSP00000499528.1:p.Ala350Gly
ENST00000662531.1:c.*944C>G	ENSP00000499488.1:n.*944C>G
ENST00000664330.1:c.*900C>G	ENSP00000499781.1:n.*900C>G
ENST00000664366.1:c.1049C>G	ENSP00000499290.1:p.Ala350Gly
ENST00000668382.1:c.1049C>G	ENSP00000499546.1:p.Ala350Gly
ENST00000357628.7:c.1049C>G	ENSP00000350249.3:p.Ala350Gly
ENST00000393329.5:c.656C>G	ENSP00000377002.1:p.Ala219Gly
ENST00000466483.1:n.329C>G
ENST00000607932.5:c.1049C>G	ENSP00000476506.1:p.Ala350Gly
ENST00000608057.5:c.*146C>G	ENSP00000476371.1:n.*146C>G
ENST00000609106.5:c.1049C>G	ENSP00000476981.1:p.Ala350Gly
NM_001042594.1:c.656C>G	NP_001036059.1:p.Ala219Gly
NM_015450.2:c.1049C>G	NP_056265.2:p.Ala350Gly
NR_003102.1:n.1770C>G
NR_003103.1:n.1650C>G
NR_003104.1:n.1650C>G
XM_006715917.2:c.1049C>G	XP_006715980.1:p.Ala350Gly
XM_011516006.1:c.656C>G	XP_011514308.1:p.Ala219Gly
XM_011516007.1:c.656C>G	XP_011514309.1:p.Ala219Gly
XM_006715917.4:c.1049C>G	XP_006715980.1:p.Ala350Gly
XM_017011942.2:c.656C>G	XP_016867431.1:p.Ala219Gly
XR_001744618.1:n.1640C>G
XR_001744619.2:n.1509C>G
NM_015450.3:c.1049C>G MANE Select	NP_056265.2:p.Ala350Gly
NM_001042594.2:c.656C>G	NP_001036059.1:p.Ala219Gly
NR_003102.2:n.1612C>G
NR_003103.2:n.1492C>G
NR_003104.2:n.1492C>G