Canonical Allele Identifier: CA1094561856
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1782455577
gnomAD v3: 6-131890537-G-T
gnomAD v4: 6-131890537-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890537G>T , CM000668.2:g.131890537G>T GRCh38
NC_000006.11:g.132211677G>T , CM000668.1:g.132211677G>T GRCh37
NC_000006.10:g.132253370G>T NCBI36
NG_008206.1:g.87522G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1235G>T
ENST00000647893.1:c.*26G>T MANE Select ENSP00000498074.1:n.*26G>T
ENST00000360971.6:c.*26G>T ENSP00000354238.2:n.*26G>T
ENST00000513998.5:c.*1641G>T ENSP00000422424.1:n.*1641G>T
NM_006208.2:c.*26G>T NP_006199.2:n.*26G>T
XM_011535896.1:c.*26G>T XP_011534198.1:n.*26G>T
NM_006208.3:c.*26G>T MANE Select NP_006199.2:n.*26G>T
Search 100 bp 5'
Search 100 bp 3'