Canonical Allele Identifier: CA452155539
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132182749T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131861609T>G , CM000668.2:g.131861609T>G GRCh38
NC_000006.11:g.132182749T>G , CM000668.1:g.132182749T>G GRCh37
NC_000006.10:g.132224442T>G NCBI36
NG_008206.1:g.58594T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.930T>G MANE Select ENSP00000498074.1:p.Ala310=
ENST00000650147.1:c.547T>G
ENST00000650437.1:c.421T>G
ENST00000360971.6:c.930T>G ENSP00000354238.2:p.Ala310=
ENST00000513998.5:c.930T>G ENSP00000422424.1:p.Ala310=
NM_006208.2:c.930T>G NP_006199.2:p.Ala310=
NM_006208.3:c.930T>G MANE Select NP_006199.2:p.Ala310=