Canonical Allele Identifier: CA346926162

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55647438-G-C
• MyVariant Identifiers: chr2:g.55874573G>C (hg19) ; chr2:g.55647438G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647438G>C , CM000664.2:g.55647438G>C	GRCh38
NC_000002.11:g.55874573G>C , CM000664.1:g.55874573G>C	GRCh37
NC_000002.10:g.55728077G>C	NCBI36
NG_033012.1:g.51473C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.1511C>G MANE Select	ENSP00000400646.2:p.Ser504Cys
ENST00000260604.8:c.*1066C>G	ENSP00000260604.4:n.*1066C>G
ENST00000415374.5:c.1511C>G	ENSP00000393953.1:p.Ser504Cys
ENST00000415489.1:c.518C>G
ENST00000447944.6:c.1511C>G	ENSP00000400646.2:p.Ser504Cys
NM_033109.4:c.1511C>G	NP_149100.2:p.Ser504Cys
XM_005264629.1:c.1271C>G	XP_005264686.1:p.Ser424Cys
XM_011533142.1:c.*43C>G	XP_011531444.1:n.*43C>G
XM_005264629.2:c.1271C>G	XP_005264686.1:p.Ser424Cys
XM_017005172.1:c.1271C>G	XP_016860661.1:p.Ser424Cys
XR_001739010.1:n.1588C>G
NM_033109.5:c.1511C>G MANE Select	NP_149100.2:p.Ser504Cys