Canonical Allele Identifier: CA346936883

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55906826T>A (hg19) ; chr2:g.55679691T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679691T>A , CM000664.2:g.55679691T>A	GRCh38
NC_000002.11:g.55906826T>A , CM000664.1:g.55906826T>A	GRCh37
NC_000002.10:g.55760330T>A	NCBI36
NG_033012.1:g.19220A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.670A>T MANE Select	ENSP00000400646.2:p.Ser224Cys
ENST00000260604.8:c.*225A>T	ENSP00000260604.4:n.*225A>T
ENST00000415374.5:c.670A>T	ENSP00000393953.1:p.Ser224Cys
ENST00000429805.1:c.*318A>T	ENSP00000411994.1:n.*318A>T
ENST00000447944.6:c.670A>T	ENSP00000400646.2:p.Ser224Cys
NM_033109.4:c.670A>T	NP_149100.2:p.Ser224Cys
XM_005264629.1:c.430A>T	XP_005264686.1:p.Ser144Cys
XM_011533142.1:c.670A>T	XP_011531444.1:p.Ser224Cys
XM_005264629.2:c.430A>T	XP_005264686.1:p.Ser144Cys
XM_017005172.1:c.430A>T	XP_016860661.1:p.Ser144Cys
XR_001739010.1:n.700A>T
NM_033109.5:c.670A>T MANE Select	NP_149100.2:p.Ser224Cys