Canonical Allele Identifier: CA452157104
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132198154T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877014T>C , CM000668.2:g.131877014T>C GRCh38
NC_000006.11:g.132198154T>C , CM000668.1:g.132198154T>C GRCh37
NC_000006.10:g.132239847T>C NCBI36
NG_008206.1:g.73999T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000683687.1:n.618T>C
ENST00000684536.1:n.244T>C
ENST00000647893.1:c.1746T>C MANE Select ENSP00000498074.1:p.Ala582=
ENST00000647981.1:n.431T>C
ENST00000650437.1:c.1237T>C
ENST00000360971.6:c.1746T>C ENSP00000354238.2:p.Ala582=
ENST00000459624.1:n.790T>C
ENST00000513998.5:c.*583T>C ENSP00000422424.1:n.*583T>C
NM_006208.2:c.1746T>C NP_006199.2:p.Ala582=
XM_011535896.1:c.636T>C XP_011534198.1:p.Ala212=
NM_006208.3:c.1746T>C MANE Select NP_006199.2:p.Ala582=
Search 100 bp 5'
Search 100 bp 3'