Canonical Allele Identifier: CA369061121

Gene: POT1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124823997T>C , CM000669.2:g.124823997T>C	GRCh38
NC_000007.13:g.124464051T>C , CM000669.1:g.124464051T>C	GRCh37
NC_000007.12:g.124251287T>C	NCBI36
NG_029232.1:g.110987A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015450.3:c.1870A>G MANE Select	NP_056265.2:p.Ile624Val
ENST00000357628.8:c.1870A>G MANE Select	ENSP00000350249.3:p.Ile624Val
NM_001042594.1:c.1477A>G	NP_001036059.1:p.Ile493Val
NM_001042594.2:c.1477A>G	NP_001036059.1:p.Ile493Val
NM_015450.2:c.1870A>G	NP_056265.2:p.Ile624Val
NR_003102.1:n.2591A>G
NR_003102.2:n.2433A>G
NR_003103.1:n.2382A>G
NR_003103.2:n.2224A>G
NR_003104.1:n.2568A>G
NR_003104.2:n.2410A>G
ENST00000357628.7:c.1870A>G	ENSP00000350249.3:p.Ile624Val
ENST00000393329.5:c.1477A>G	ENSP00000377002.1:p.Ile493Val
ENST00000430927.5:c.221A>G
ENST00000430927.6:c.*224A>G	ENSP00000397632.2:n.*224A>G
ENST00000436534.5:c.365A>G
ENST00000607932.5:c.*224A>G	ENSP00000476506.1:n.*224A>G
ENST00000608057.5:c.*967A>G	ENSP00000476371.1:n.*967A>G
ENST00000609106.5:c.*140A>G	ENSP00000476981.1:n.*140A>G
ENST00000653241.1:c.1870A>G	ENSP00000499476.1:p.Ile624Val
ENST00000653274.1:c.*249A>G	ENSP00000499382.1:n.*249A>G
ENST00000653819.1:c.*1601A>G	ENSP00000499533.1:n.*1601A>G
ENST00000653892.1:c.*1512A>G	ENSP00000499506.1:n.*1512A>G
ENST00000654766.1:c.1645A>G	ENSP00000499395.1:p.Ile549Val
ENST00000655761.1:c.1870A>G	ENSP00000499635.1:p.Ile624Val
ENST00000657333.1:c.*1469A>G	ENSP00000499425.1:n.*1469A>G
ENST00000657892.1:c.*1739A>G	ENSP00000499524.1:n.*1739A>G
ENST00000661898.1:c.*334A>G	ENSP00000499528.1:n.*334A>G
ENST00000662531.1:c.*1765A>G	ENSP00000499488.1:n.*1765A>G
ENST00000664330.1:c.*1721A>G	ENSP00000499781.1:n.*1721A>G
ENST00000664366.1:c.1870A>G	ENSP00000499290.1:p.Ile624Val
ENST00000668382.1:c.1870A>G	ENSP00000499546.1:p.Ile624Val
XM_006715917.2:c.1870A>G	XP_006715980.1:p.Ile624Val
XM_006715917.4:c.1870A>G	XP_006715980.1:p.Ile624Val
XM_011516006.1:c.1477A>G	XP_011514308.1:p.Ile493Val
XM_011516007.1:c.1477A>G	XP_011514309.1:p.Ile493Val
XM_017011942.2:c.1477A>G	XP_016867431.1:p.Ile493Val
XR_001744618.1:n.2372A>G
XR_001744619.2:n.2241A>G