Canonical Allele Identifier: CA147922465

Gene: ENPP1

Linked Data

• dbSNP Id: rs1022955161
• gnomAD v2: 6-132167949-A-T
• gnomAD v3: 6-131846809-A-T
• gnomAD v4: 6-131846809-A-T
• MyVariant Identifiers: chr6:g.132167949A>T (hg19) ; chr6:g.131846809A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131846809A>T , CM000668.2:g.131846809A>T	GRCh38
NC_000006.11:g.132167949A>T , CM000668.1:g.132167949A>T	GRCh37
NC_000006.10:g.132209642A>T	NCBI36
NG_008206.1:g.43794A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684147.1:n.519-967A>T
ENST00000647893.1:c.241-967A>T MANE Select	ENSP00000498074.1:n.241-967A>T
ENST00000650507.1:c.248-967A>T	ENSP00000497375.1:n.248-967A>T
ENST00000360971.6:c.241-967A>T	ENSP00000354238.2:n.241-967A>T
ENST00000486853.1:n.261-967A>T
ENST00000513998.5:c.241-967A>T	ENSP00000422424.1:n.241-967A>T
NM_006208.2:c.241-967A>T	NP_006199.2:n.241-967A>T
NM_006208.3:c.241-967A>T MANE Select	NP_006199.2:n.241-967A>T