Canonical Allele Identifier: CA147926059
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs748106753
gnomAD v2: 6-132172107-T-G
gnomAD v3: 6-131850967-T-G
gnomAD v4: 6-131850967-T-G
MyVariant Identifiers: chr6:g.132172107T>G (hg19) chr6:g.131850967T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131850967T>G , CM000668.2:g.131850967T>G GRCh38
NC_000006.11:g.132172107T>G , CM000668.1:g.132172107T>G GRCh37
NC_000006.10:g.132213800T>G NCBI36
NG_008206.1:g.47952T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.431-175T>G MANE Select ENSP00000498074.1:n.431-175T>G
ENST00000650147.1:c.109-175T>G
ENST00000650437.1:c.108+861T>G
ENST00000360971.6:c.431-175T>G ENSP00000354238.2:n.431-175T>G
ENST00000486853.1:n.451-175T>G
ENST00000513998.5:c.431-175T>G ENSP00000422424.1:n.431-175T>G
NM_006208.2:c.431-175T>G NP_006199.2:n.431-175T>G
NM_006208.3:c.431-175T>G MANE Select NP_006199.2:n.431-175T>G
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