Canonical Allele Identifier: CA369068437

Gene: POT1

Linked Data

• MyVariant Identifiers: chr7:g.124482952G>T (hg19) ; chr7:g.124842898G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124842898G>T , CM000669.2:g.124842898G>T	GRCh38
NC_000007.13:g.124482952G>T , CM000669.1:g.124482952G>T	GRCh37
NC_000007.12:g.124270188G>T	NCBI36
NG_029232.1:g.92086C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357628.8:c.1072C>A MANE Select	ENSP00000350249.3:p.Gln358Lys
ENST00000430927.6:c.1072C>A	ENSP00000397632.2:p.Gln358Lys
ENST00000653241.1:c.1072C>A	ENSP00000499476.1:p.Gln358Lys
ENST00000653274.1:c.1072C>A	ENSP00000499382.1:p.Gln358Lys
ENST00000653819.1:c.*803C>A	ENSP00000499533.1:n.*803C>A
ENST00000653892.1:c.*714C>A	ENSP00000499506.1:n.*714C>A
ENST00000654766.1:c.1072C>A	ENSP00000499395.1:p.Gln358Lys
ENST00000655761.1:c.1072C>A	ENSP00000499635.1:p.Gln358Lys
ENST00000657333.1:c.*803C>A	ENSP00000499425.1:n.*803C>A
ENST00000657892.1:c.*941C>A	ENSP00000499524.1:n.*941C>A
ENST00000661898.1:c.1072C>A	ENSP00000499528.1:p.Gln358Lys
ENST00000662531.1:c.*967C>A	ENSP00000499488.1:n.*967C>A
ENST00000664330.1:c.*923C>A	ENSP00000499781.1:n.*923C>A
ENST00000664366.1:c.1072C>A	ENSP00000499290.1:p.Gln358Lys
ENST00000668382.1:c.1072C>A	ENSP00000499546.1:p.Gln358Lys
ENST00000357628.7:c.1072C>A	ENSP00000350249.3:p.Gln358Lys
ENST00000393329.5:c.679C>A	ENSP00000377002.1:p.Gln227Lys
ENST00000466483.1:n.352C>A
ENST00000607932.5:c.1072C>A	ENSP00000476506.1:p.Gln358Lys
ENST00000608057.5:c.*169C>A	ENSP00000476371.1:n.*169C>A
ENST00000609106.5:c.1072C>A	ENSP00000476981.1:p.Gln358Lys
NM_001042594.1:c.679C>A	NP_001036059.1:p.Gln227Lys
NM_015450.2:c.1072C>A	NP_056265.2:p.Gln358Lys
NR_003102.1:n.1793C>A
NR_003103.1:n.1673C>A
NR_003104.1:n.1673C>A
XM_006715917.2:c.1072C>A	XP_006715980.1:p.Gln358Lys
XM_011516006.1:c.679C>A	XP_011514308.1:p.Gln227Lys
XM_011516007.1:c.679C>A	XP_011514309.1:p.Gln227Lys
XM_006715917.4:c.1072C>A	XP_006715980.1:p.Gln358Lys
XM_017011942.2:c.679C>A	XP_016867431.1:p.Gln227Lys
XR_001744618.1:n.1663C>A
XR_001744619.2:n.1532C>A
NM_015450.3:c.1072C>A MANE Select	NP_056265.2:p.Gln358Lys
NM_001042594.2:c.679C>A	NP_001036059.1:p.Gln227Lys
NR_003102.2:n.1635C>A
NR_003103.2:n.1515C>A
NR_003104.2:n.1515C>A