Canonical Allele Identifier: CA4002587
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs775793071
ExAC: 6:132211461 T / C
gnomAD v3: 6-131890321-T-C
gnomAD v4: 6-131890321-T-C
MyVariant Identifiers: chr6:g.132211461T>C (hg19) chr6:g.131890321T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890321T>C , CM000668.2:g.131890321T>C GRCh38
NC_000006.11:g.132211461T>C , CM000668.1:g.132211461T>C GRCh37
NC_000006.10:g.132253154T>C NCBI36
NG_008206.1:g.87306T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684674.1:n.1039-20T>C
ENST00000647893.1:c.2608-20T>C MANE Select ENSP00000498074.1:n.2608-20T>C
ENST00000360971.6:c.2608-20T>C ENSP00000354238.2:n.2608-20T>C
ENST00000513998.5:c.*1445-20T>C ENSP00000422424.1:n.*1445-20T>C
NM_006208.2:c.2608-20T>C NP_006199.2:n.2608-20T>C
XM_011535896.1:c.1498-20T>C XP_011534198.1:n.1498-20T>C
NM_006208.3:c.2608-20T>C MANE Select NP_006199.2:n.2608-20T>C
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