Canonical Allele Identifier: CA4002328
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs777692438
ExAC: 6:132198202 T / C
gnomAD v2: 6-132198202-T-C
gnomAD v3: 6-131877062-T-C
gnomAD v4: 6-131877062-T-C
MyVariant Identifiers: chr6:g.132198202T>C (hg19) chr6:g.131877062T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877062T>C , CM000668.2:g.131877062T>C GRCh38
NC_000006.11:g.132198202T>C , CM000668.1:g.132198202T>C GRCh37
NC_000006.10:g.132239895T>C NCBI36
NG_008206.1:g.74047T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000683687.1:n.666T>C
ENST00000684536.1:n.292T>C
ENST00000647893.1:c.1794T>C MANE Select ENSP00000498074.1:p.Pro598=
ENST00000647981.1:n.479T>C
ENST00000650437.1:c.1285T>C
ENST00000360971.6:c.1794T>C ENSP00000354238.2:p.Pro598=
ENST00000459624.1:n.838T>C
ENST00000513998.5:c.*631T>C ENSP00000422424.1:n.*631T>C
NM_006208.2:c.1794T>C NP_006199.2:p.Pro598=
XM_011535896.1:c.684T>C XP_011534198.1:p.Pro228=
NM_006208.3:c.1794T>C MANE Select NP_006199.2:p.Pro598=
Search 100 bp 5'
Search 100 bp 3'