Canonical Allele Identifier: CA147922471

Gene: ENPP1

Linked Data

• dbSNP Id: rs535249453
• gnomAD v3: 6-131846822-T-C
• gnomAD v4: 6-131846822-T-C
• MyVariant Identifiers: chr6:g.132167962T>C (hg19) ; chr6:g.131846822T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131846822T>C , CM000668.2:g.131846822T>C	GRCh38
NC_000006.11:g.132167962T>C , CM000668.1:g.132167962T>C	GRCh37
NC_000006.10:g.132209655T>C	NCBI36
NG_008206.1:g.43807T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684147.1:n.519-954T>C
ENST00000647893.1:c.241-954T>C MANE Select	ENSP00000498074.1:n.241-954T>C
ENST00000650507.1:c.248-954T>C	ENSP00000497375.1:n.248-954T>C
ENST00000360971.6:c.241-954T>C	ENSP00000354238.2:n.241-954T>C
ENST00000486853.1:n.261-954T>C
ENST00000513998.5:c.241-954T>C	ENSP00000422424.1:n.241-954T>C
NM_006208.2:c.241-954T>C	NP_006199.2:n.241-954T>C
NM_006208.3:c.241-954T>C MANE Select	NP_006199.2:n.241-954T>C