Canonical Allele Identifier: CA570095865

Gene: ENPP1

Linked Data

• dbSNP Id: rs1277303410
• gnomAD v2: 6-132167878-A-C
• gnomAD v3: 6-131846738-A-C
• gnomAD v4: 6-131846738-A-C
• MyVariant Identifiers: chr6:g.132167878A>C (hg19) ; chr6:g.131846738A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131846738A>C , CM000668.2:g.131846738A>C	GRCh38
NC_000006.11:g.132167878A>C , CM000668.1:g.132167878A>C	GRCh37
NC_000006.10:g.132209571A>C	NCBI36
NG_008206.1:g.43723A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684147.1:n.519-1038A>C
ENST00000647893.1:c.241-1038A>C MANE Select	ENSP00000498074.1:n.241-1038A>C
ENST00000650507.1:c.248-1038A>C	ENSP00000497375.1:n.248-1038A>C
ENST00000360971.6:c.241-1038A>C	ENSP00000354238.2:n.241-1038A>C
ENST00000486853.1:n.261-1038A>C
ENST00000513998.5:c.241-1038A>C	ENSP00000422424.1:n.241-1038A>C
NM_006208.2:c.241-1038A>C	NP_006199.2:n.241-1038A>C
NM_006208.3:c.241-1038A>C MANE Select	NP_006199.2:n.241-1038A>C