Canonical Allele Identifier: CA123287
Gene: ENPP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13589
dbSNP Id: rs1044498

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851228A>C , CM000668.2:g.131851228A>C GRCh38
NC_000006.11:g.132172368A>C , CM000668.1:g.132172368A>C GRCh37
NC_000006.10:g.132214061A>C NCBI36
NG_008206.1:g.48213A>C

Transcript Alleles

HGVS Amino-acid change
NM_006208.2:c.517A>C VV NP_006199.2:p.Lys173Gln
NM_006208.3:c.517A>C VV MANE Preferred NP_006199.2:p.Lys173Gln
ENST00000360971.6:c.517A>C ENSP00000354238.2:p.Lys173Gln
ENST00000486853.1:n.537A>C
ENST00000513998.5:c.517A>C ENSP00000422424.1:p.Lys173Gln