Canonical Allele Identifier: CA346937183

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55906849A>C (hg19) ; chr2:g.55679714A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679714A>C , CM000664.2:g.55679714A>C	GRCh38
NC_000002.11:g.55906849A>C , CM000664.1:g.55906849A>C	GRCh37
NC_000002.10:g.55760353A>C	NCBI36
NG_033012.1:g.19197T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.647T>G MANE Select	ENSP00000400646.2:p.Leu216Ter
ENST00000260604.8:c.*202T>G	ENSP00000260604.4:n.*202T>G
ENST00000415374.5:c.647T>G	ENSP00000393953.1:p.Leu216Ter
ENST00000429805.1:c.*295T>G	ENSP00000411994.1:n.*295T>G
ENST00000447944.6:c.647T>G	ENSP00000400646.2:p.Leu216Ter
NM_033109.4:c.647T>G	NP_149100.2:p.Leu216Ter
XM_005264629.1:c.407T>G	XP_005264686.1:p.Leu136Ter
XM_011533142.1:c.647T>G	XP_011531444.1:p.Leu216Ter
XM_005264629.2:c.407T>G	XP_005264686.1:p.Leu136Ter
XM_017005172.1:c.407T>G	XP_016860661.1:p.Leu136Ter
XR_001739010.1:n.677T>G
NM_033109.5:c.647T>G MANE Select	NP_149100.2:p.Leu216Ter