Canonical Allele Identifier: CA369067273

Gene: POT1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124841075T>C , CM000669.2:g.124841075T>C	GRCh38
NC_000007.13:g.124481129T>C , CM000669.1:g.124481129T>C	GRCh37
NC_000007.12:g.124268365T>C	NCBI36
NG_029232.1:g.93909A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357628.8:c.1267A>G MANE Select	ENSP00000350249.3:p.Ile423Val
ENST00000430927.6:c.1267A>G	ENSP00000397632.2:p.Ile423Val
ENST00000653241.1:c.1267A>G	ENSP00000499476.1:p.Ile423Val
ENST00000653274.1:c.1267A>G	ENSP00000499382.1:p.Ile423Val
ENST00000653819.1:c.*998A>G	ENSP00000499533.1:n.*998A>G
ENST00000653892.1:c.*909A>G	ENSP00000499506.1:n.*909A>G
ENST00000654766.1:c.1267A>G	ENSP00000499395.1:p.Ile423Val
ENST00000655761.1:c.1267A>G	ENSP00000499635.1:p.Ile423Val
ENST00000657333.1:c.*955A>G	ENSP00000499425.1:n.*955A>G
ENST00000657892.1:c.*1136A>G	ENSP00000499524.1:n.*1136A>G
ENST00000661898.1:c.1267A>G	ENSP00000499528.1:p.Ile423Val
ENST00000662531.1:c.*1162A>G	ENSP00000499488.1:n.*1162A>G
ENST00000664330.1:c.*1118A>G	ENSP00000499781.1:n.*1118A>G
ENST00000664366.1:c.1267A>G	ENSP00000499290.1:p.Ile423Val
ENST00000668382.1:c.1267A>G	ENSP00000499546.1:p.Ile423Val
ENST00000357628.7:c.1267A>G	ENSP00000350249.3:p.Ile423Val
ENST00000393329.5:c.874A>G	ENSP00000377002.1:p.Ile292Val
ENST00000466483.1:n.547A>G
ENST00000607932.5:c.1267A>G	ENSP00000476506.1:p.Ile423Val
ENST00000608057.5:c.*364A>G	ENSP00000476371.1:n.*364A>G
ENST00000608200.1:c.130A>G	ENSP00000477320.1:p.Ile44Val
ENST00000609106.5:c.1267A>G	ENSP00000476981.1:p.Ile423Val
NM_001042594.1:c.874A>G	NP_001036059.1:p.Ile292Val
NM_015450.2:c.1267A>G	NP_056265.2:p.Ile423Val
NR_003102.1:n.1988A>G
NR_003103.1:n.1868A>G
NR_003104.1:n.1868A>G
XM_006715917.2:c.1267A>G	XP_006715980.1:p.Ile423Val
XM_011516006.1:c.874A>G	XP_011514308.1:p.Ile292Val
XM_011516007.1:c.874A>G	XP_011514309.1:p.Ile292Val
XM_006715917.4:c.1267A>G	XP_006715980.1:p.Ile423Val
XM_017011942.2:c.874A>G	XP_016867431.1:p.Ile292Val
XR_001744618.1:n.1858A>G
XR_001744619.2:n.1727A>G
NM_015450.3:c.1267A>G MANE Select	NP_056265.2:p.Ile423Val
NM_001042594.2:c.874A>G	NP_001036059.1:p.Ile292Val
NR_003102.2:n.1830A>G
NR_003103.2:n.1710A>G
NR_003104.2:n.1710A>G