Canonical Allele Identifier: CA147926796
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs933017146
gnomAD v2: 6-132172700-A-G
gnomAD v3: 6-131851560-A-G
gnomAD v4: 6-131851560-A-G
MyVariant Identifiers: chr6:g.132172700A>G (hg19) chr6:g.131851560A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851560A>G , CM000668.2:g.131851560A>G GRCh38
NC_000006.11:g.132172700A>G , CM000668.1:g.132172700A>G GRCh37
NC_000006.10:g.132214393A>G NCBI36
NG_008206.1:g.48545A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+293A>G MANE Select ENSP00000498074.1:n.556+293A>G
ENST00000650147.1:c.234+293A>G
ENST00000650437.1:c.108+1454A>G
ENST00000360971.6:c.556+293A>G ENSP00000354238.2:n.556+293A>G
ENST00000513998.5:c.556+293A>G ENSP00000422424.1:n.556+293A>G
NM_006208.2:c.556+293A>G NP_006199.2:n.556+293A>G
NM_006208.3:c.556+293A>G MANE Select NP_006199.2:n.556+293A>G
Search 100 bp 5'
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