Canonical Allele Identifier: CA166104479

Gene: POT1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124841125G>A , CM000669.2:g.124841125G>A	GRCh38
NC_000007.13:g.124481179G>A , CM000669.1:g.124481179G>A	GRCh37
NC_000007.12:g.124268415G>A	NCBI36
NG_029232.1:g.93859C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015450.3:c.1217C>T MANE Select	NP_056265.2:p.Thr406Ile
ENST00000357628.8:c.1217C>T MANE Select	ENSP00000350249.3:p.Thr406Ile
NM_001042594.1:c.824C>T	NP_001036059.1:p.Thr275Ile
NM_001042594.2:c.824C>T	NP_001036059.1:p.Thr275Ile
NM_015450.2:c.1217C>T	NP_056265.2:p.Thr406Ile
NR_003102.1:n.1938C>T
NR_003102.2:n.1780C>T
NR_003103.1:n.1818C>T
NR_003103.2:n.1660C>T
NR_003104.1:n.1818C>T
NR_003104.2:n.1660C>T
ENST00000357628.7:c.1217C>T	ENSP00000350249.3:p.Thr406Ile
ENST00000393329.5:c.824C>T	ENSP00000377002.1:p.Thr275Ile
ENST00000430927.6:c.1217C>T	ENSP00000397632.2:p.Thr406Ile
ENST00000466483.1:n.497C>T
ENST00000607932.5:c.1217C>T	ENSP00000476506.1:p.Thr406Ile
ENST00000608057.5:c.*314C>T	ENSP00000476371.1:n.*314C>T
ENST00000608200.1:c.80C>T	ENSP00000477320.1:p.Thr27Ile
ENST00000609106.5:c.1217C>T	ENSP00000476981.1:p.Thr406Ile
ENST00000653241.1:c.1217C>T	ENSP00000499476.1:p.Thr406Ile
ENST00000653274.1:c.1217C>T	ENSP00000499382.1:p.Thr406Ile
ENST00000653819.1:c.*948C>T	ENSP00000499533.1:n.*948C>T
ENST00000653892.1:c.*859C>T	ENSP00000499506.1:n.*859C>T
ENST00000654766.1:c.1217C>T	ENSP00000499395.1:p.Thr406Ile
ENST00000655761.1:c.1217C>T	ENSP00000499635.1:p.Thr406Ile
ENST00000657333.1:c.*905C>T	ENSP00000499425.1:n.*905C>T
ENST00000657892.1:c.*1086C>T	ENSP00000499524.1:n.*1086C>T
ENST00000661898.1:c.1217C>T	ENSP00000499528.1:p.Thr406Ile
ENST00000662531.1:c.*1112C>T	ENSP00000499488.1:n.*1112C>T
ENST00000664330.1:c.*1068C>T	ENSP00000499781.1:n.*1068C>T
ENST00000664366.1:c.1217C>T	ENSP00000499290.1:p.Thr406Ile
ENST00000668382.1:c.1217C>T	ENSP00000499546.1:p.Thr406Ile
XM_006715917.2:c.1217C>T	XP_006715980.1:p.Thr406Ile
XM_006715917.4:c.1217C>T	XP_006715980.1:p.Thr406Ile
XM_011516006.1:c.824C>T	XP_011514308.1:p.Thr275Ile
XM_011516007.1:c.824C>T	XP_011514309.1:p.Thr275Ile
XM_017011942.2:c.824C>T	XP_016867431.1:p.Thr275Ile
XR_001744618.1:n.1808C>T
XR_001744619.2:n.1677C>T