Canonical Allele Identifier: CA346937106

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55906844C>G (hg19) ; chr2:g.55679709C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679709C>G , CM000664.2:g.55679709C>G	GRCh38
NC_000002.11:g.55906844C>G , CM000664.1:g.55906844C>G	GRCh37
NC_000002.10:g.55760348C>G	NCBI36
NG_033012.1:g.19202G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.652G>C MANE Select	ENSP00000400646.2:p.Val218Leu
ENST00000260604.8:c.*207G>C	ENSP00000260604.4:n.*207G>C
ENST00000415374.5:c.652G>C	ENSP00000393953.1:p.Val218Leu
ENST00000429805.1:c.*300G>C	ENSP00000411994.1:n.*300G>C
ENST00000447944.6:c.652G>C	ENSP00000400646.2:p.Val218Leu
NM_033109.4:c.652G>C	NP_149100.2:p.Val218Leu
XM_005264629.1:c.412G>C	XP_005264686.1:p.Val138Leu
XM_011533142.1:c.652G>C	XP_011531444.1:p.Val218Leu
XM_005264629.2:c.412G>C	XP_005264686.1:p.Val138Leu
XM_017005172.1:c.412G>C	XP_016860661.1:p.Val138Leu
XR_001739010.1:n.682G>C
NM_033109.5:c.652G>C MANE Select	NP_149100.2:p.Val218Leu