Canonical Allele Identifier: CA819074669
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1281092748
gnomAD v3: 6-131890600-A-C
gnomAD v4: 6-131890600-A-C
MyVariant Identifiers: chr6:g.132211740A>C (hg19) chr6:g.131890600A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890600A>C , CM000668.2:g.131890600A>C GRCh38
NC_000006.11:g.132211740A>C , CM000668.1:g.132211740A>C GRCh37
NC_000006.10:g.132253433A>C NCBI36
NG_008206.1:g.87585A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1298A>C
ENST00000647893.1:c.*89A>C MANE Select ENSP00000498074.1:n.*89A>C
ENST00000360971.6:c.*89A>C ENSP00000354238.2:n.*89A>C
ENST00000513998.5:c.*1704A>C ENSP00000422424.1:n.*1704A>C
NM_006208.2:c.*89A>C NP_006199.2:n.*89A>C
XM_011535896.1:c.*89A>C XP_011534198.1:n.*89A>C
NM_006208.3:c.*89A>C MANE Select NP_006199.2:n.*89A>C
Search 100 bp 5'
Search 100 bp 3'