Canonical Allele Identifier: CA365660910

Gene: ENPP1

Linked Data

• gnomAD v4: 6-131851144-C-T
• MyVariant Identifiers: chr6:g.132172284C>T (hg19) ; chr6:g.131851144C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851144C>T , CM000668.2:g.131851144C>T	GRCh38
NC_000006.11:g.132172284C>T , CM000668.1:g.132172284C>T	GRCh37
NC_000006.10:g.132213977C>T	NCBI36
NG_008206.1:g.48129C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.433C>T MANE Select	ENSP00000498074.1:p.His145Tyr
ENST00000650147.1:c.111C>T
ENST00000650437.1:c.108+1038C>T
ENST00000360971.6:c.433C>T	ENSP00000354238.2:p.His145Tyr
ENST00000486853.1:n.453C>T
ENST00000513998.5:c.433C>T	ENSP00000422424.1:p.His145Tyr
NM_006208.2:c.433C>T	NP_006199.2:p.His145Tyr
NM_006208.3:c.433C>T MANE Select	NP_006199.2:p.His145Tyr