Canonical Allele Identifier: CA4465123

Gene: POT1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124835368A>C , CM000669.2:g.124835368A>C	GRCh38
NC_000007.13:g.124475422A>C , CM000669.1:g.124475422A>C	GRCh37
NC_000007.12:g.124262658A>C	NCBI36
NG_029232.1:g.99616T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357628.8:c.1416T>G MANE Select	ENSP00000350249.3:p.Ser472Arg
ENST00000430927.6:c.1416T>G	ENSP00000397632.2:p.Ser472Arg
ENST00000653241.1:c.1416T>G	ENSP00000499476.1:p.Ser472Arg
ENST00000653274.1:c.1416T>G	ENSP00000499382.1:p.Ser472Arg
ENST00000653819.1:c.*1147T>G	ENSP00000499533.1:n.*1147T>G
ENST00000653892.1:c.*1058T>G	ENSP00000499506.1:n.*1058T>G
ENST00000654766.1:c.1369+5605T>G	ENSP00000499395.1:n.1369+5605T>G
ENST00000655761.1:c.1416T>G	ENSP00000499635.1:p.Ser472Arg
ENST00000657333.1:c.*1104T>G	ENSP00000499425.1:n.*1104T>G
ENST00000657892.1:c.*1285T>G	ENSP00000499524.1:n.*1285T>G
ENST00000661898.1:c.1416T>G	ENSP00000499528.1:p.Ser472Arg
ENST00000662531.1:c.*1311T>G	ENSP00000499488.1:n.*1311T>G
ENST00000664330.1:c.*1267T>G	ENSP00000499781.1:n.*1267T>G
ENST00000664366.1:c.1416T>G	ENSP00000499290.1:p.Ser472Arg
ENST00000668382.1:c.1416T>G	ENSP00000499546.1:p.Ser472Arg
ENST00000357628.7:c.1416T>G	ENSP00000350249.3:p.Ser472Arg
ENST00000393329.5:c.1023T>G	ENSP00000377002.1:p.Ser341Arg
ENST00000607932.5:c.1416T>G	ENSP00000476506.1:p.Ser472Arg
ENST00000608057.5:c.*513T>G	ENSP00000476371.1:n.*513T>G
ENST00000609106.5:c.1416T>G	ENSP00000476981.1:p.Ser472Arg
NM_001042594.1:c.1023T>G	NP_001036059.1:p.Ser341Arg
NM_015450.2:c.1416T>G	NP_056265.2:p.Ser472Arg
NR_003102.1:n.2137T>G
NR_003103.1:n.2017T>G
NR_003104.1:n.2114T>G
XM_006715917.2:c.1416T>G	XP_006715980.1:p.Ser472Arg
XM_011516006.1:c.1023T>G	XP_011514308.1:p.Ser341Arg
XM_011516007.1:c.1023T>G	XP_011514309.1:p.Ser341Arg
XM_006715917.4:c.1416T>G	XP_006715980.1:p.Ser472Arg
XM_017011942.2:c.1023T>G	XP_016867431.1:p.Ser341Arg
XR_001744618.1:n.2007T>G
XR_001744619.2:n.1876T>G
NM_015450.3:c.1416T>G MANE Select	NP_056265.2:p.Ser472Arg
NM_001042594.2:c.1023T>G	NP_001036059.1:p.Ser341Arg
NR_003102.2:n.1979T>G
NR_003103.2:n.1859T>G
NR_003104.2:n.1956T>G