Canonical Allele Identifier: CA147922437

Gene: ENPP1

Linked Data

• dbSNP Id: rs967425729
• gnomAD v2: 6-132167895-C-T
• MyVariant Identifiers: chr6:g.132167895C>T (hg19) ; chr6:g.131846755C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131846755C>T , CM000668.2:g.131846755C>T	GRCh38
NC_000006.11:g.132167895C>T , CM000668.1:g.132167895C>T	GRCh37
NC_000006.10:g.132209588C>T	NCBI36
NG_008206.1:g.43740C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684147.1:n.519-1021C>T
ENST00000647893.1:c.241-1021C>T MANE Select	ENSP00000498074.1:n.241-1021C>T
ENST00000650507.1:c.248-1021C>T	ENSP00000497375.1:n.248-1021C>T
ENST00000360971.6:c.241-1021C>T	ENSP00000354238.2:n.241-1021C>T
ENST00000486853.1:n.261-1021C>T
ENST00000513998.5:c.241-1021C>T	ENSP00000422424.1:n.241-1021C>T
NM_006208.2:c.241-1021C>T	NP_006199.2:n.241-1021C>T
NM_006208.3:c.241-1021C>T MANE Select	NP_006199.2:n.241-1021C>T