Canonical Allele Identifier: CA426171942

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55874584A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647449A>G , CM000664.2:g.55647449A>G	GRCh38
NC_000002.11:g.55874584A>G , CM000664.1:g.55874584A>G	GRCh37
NC_000002.10:g.55728088A>G	NCBI36
NG_033012.1:g.51462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1500T>C MANE Select	ENSP00000400646.2:p.Val500=
ENST00000260604.8:c.*1055T>C	ENSP00000260604.4:n.*1055T>C
ENST00000415374.5:c.1500T>C	ENSP00000393953.1:p.Val500=
ENST00000415489.1:c.507T>C
ENST00000447944.6:c.1500T>C	ENSP00000400646.2:p.Val500=
NM_033109.4:c.1500T>C	NP_149100.2:p.Val500=
XM_005264629.1:c.1260T>C	XP_005264686.1:p.Val420=
XM_011533142.1:c.*32T>C	XP_011531444.1:n.*32T>C
XM_005264629.2:c.1260T>C	XP_005264686.1:p.Val420=
XM_017005172.1:c.1260T>C	XP_016860661.1:p.Val420=
XR_001739010.1:n.1577T>C
NM_033109.5:c.1500T>C MANE Select	NP_149100.2:p.Val500=