Canonical Allele Identifier: CA147926050

Gene: ENPP1

Linked Data

• dbSNP Id: rs565934111
• gnomAD v3: 6-131850955-G-C
• gnomAD v4: 6-131850955-G-C
• MyVariant Identifiers: chr6:g.132172095G>C (hg19) ; chr6:g.131850955G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131850955G>C , CM000668.2:g.131850955G>C	GRCh38
NC_000006.11:g.132172095G>C , CM000668.1:g.132172095G>C	GRCh37
NC_000006.10:g.132213788G>C	NCBI36
NG_008206.1:g.47940G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.431-187G>C MANE Select	ENSP00000498074.1:n.431-187G>C
ENST00000650147.1:c.109-187G>C
ENST00000650437.1:c.108+849G>C
ENST00000360971.6:c.431-187G>C	ENSP00000354238.2:n.431-187G>C
ENST00000486853.1:n.451-187G>C
ENST00000513998.5:c.431-187G>C	ENSP00000422424.1:n.431-187G>C
NM_006208.2:c.431-187G>C	NP_006199.2:n.431-187G>C
NM_006208.3:c.431-187G>C MANE Select	NP_006199.2:n.431-187G>C