Canonical Allele Identifier: CA452154679

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132172400G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851260G>C , CM000668.2:g.131851260G>C	GRCh38
NC_000006.11:g.132172400G>C , CM000668.1:g.132172400G>C	GRCh37
NC_000006.10:g.132214093G>C	NCBI36
NG_008206.1:g.48245G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.549G>C MANE Select	ENSP00000498074.1:p.Val183=
ENST00000650147.1:c.227G>C
ENST00000650437.1:c.108+1154G>C
ENST00000360971.6:c.549G>C	ENSP00000354238.2:p.Val183=
ENST00000486853.1:n.569G>C
ENST00000513998.5:c.549G>C	ENSP00000422424.1:p.Val183=
NM_006208.2:c.549G>C	NP_006199.2:p.Val183=
NM_006208.3:c.549G>C MANE Select	NP_006199.2:p.Val183=