Canonical Allele Identifier: CA452155544
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132182758A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131861618A>G , CM000668.2:g.131861618A>G GRCh38
NC_000006.11:g.132182758A>G , CM000668.1:g.132182758A>G GRCh37
NC_000006.10:g.132224451A>G NCBI36
NG_008206.1:g.58603A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647893.1:c.939A>G MANE Select ENSP00000498074.1:p.Gln313=
ENST00000650147.1:c.556A>G
ENST00000650437.1:c.430A>G
ENST00000360971.6:c.939A>G ENSP00000354238.2:p.Gln313=
ENST00000459624.1:n.9A>G
ENST00000513998.5:c.939A>G ENSP00000422424.1:p.Gln313=
NM_006208.2:c.939A>G NP_006199.2:p.Gln313=
NM_006208.3:c.939A>G MANE Select NP_006199.2:p.Gln313=