Canonical Allele Identifier: CA346936841

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55906824A>C (hg19) ; chr2:g.55679689A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679689A>C , CM000664.2:g.55679689A>C	GRCh38
NC_000002.11:g.55906824A>C , CM000664.1:g.55906824A>C	GRCh37
NC_000002.10:g.55760328A>C	NCBI36
NG_033012.1:g.19222T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.672T>G MANE Select	ENSP00000400646.2:p.Ser224Arg
ENST00000260604.8:c.*227T>G	ENSP00000260604.4:n.*227T>G
ENST00000415374.5:c.672T>G	ENSP00000393953.1:p.Ser224Arg
ENST00000429805.1:c.*320T>G	ENSP00000411994.1:n.*320T>G
ENST00000447944.6:c.672T>G	ENSP00000400646.2:p.Ser224Arg
NM_033109.4:c.672T>G	NP_149100.2:p.Ser224Arg
XM_005264629.1:c.432T>G	XP_005264686.1:p.Ser144Arg
XM_011533142.1:c.672T>G	XP_011531444.1:p.Ser224Arg
XM_005264629.2:c.432T>G	XP_005264686.1:p.Ser144Arg
XM_017005172.1:c.432T>G	XP_016860661.1:p.Ser144Arg
XR_001739010.1:n.702T>G
NM_033109.5:c.672T>G MANE Select	NP_149100.2:p.Ser224Arg