Canonical Allele Identifier: CA346937017

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55906835C>G (hg19) ; chr2:g.55679700C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679700C>G , CM000664.2:g.55679700C>G	GRCh38
NC_000002.11:g.55906835C>G , CM000664.1:g.55906835C>G	GRCh37
NC_000002.10:g.55760339C>G	NCBI36
NG_033012.1:g.19211G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.661G>C MANE Select	ENSP00000400646.2:p.Ala221Pro
ENST00000260604.8:c.*216G>C	ENSP00000260604.4:n.*216G>C
ENST00000415374.5:c.661G>C	ENSP00000393953.1:p.Ala221Pro
ENST00000429805.1:c.*309G>C	ENSP00000411994.1:n.*309G>C
ENST00000447944.6:c.661G>C	ENSP00000400646.2:p.Ala221Pro
NM_033109.4:c.661G>C	NP_149100.2:p.Ala221Pro
XM_005264629.1:c.421G>C	XP_005264686.1:p.Ala141Pro
XM_011533142.1:c.661G>C	XP_011531444.1:p.Ala221Pro
XM_005264629.2:c.421G>C	XP_005264686.1:p.Ala141Pro
XM_017005172.1:c.421G>C	XP_016860661.1:p.Ala141Pro
XR_001739010.1:n.691G>C
NM_033109.5:c.661G>C MANE Select	NP_149100.2:p.Ala221Pro