Canonical Allele Identifier: CA2680366472

Gene: ENPP1

Linked Data

• gnomAD v4: 6-131851521-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851521C>T , CM000668.2:g.131851521C>T	GRCh38
NC_000006.11:g.132172661C>T , CM000668.1:g.132172661C>T	GRCh37
NC_000006.10:g.132214354C>T	NCBI36
NG_008206.1:g.48506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.556+254C>T MANE Select	ENSP00000498074.1:n.556+254C>T
ENST00000650147.1:c.234+254C>T
ENST00000650437.1:c.108+1415C>T
ENST00000360971.6:c.556+254C>T	ENSP00000354238.2:n.556+254C>T
ENST00000513998.5:c.556+254C>T	ENSP00000422424.1:n.556+254C>T
NM_006208.2:c.556+254C>T	NP_006199.2:n.556+254C>T
NM_006208.3:c.556+254C>T MANE Select	NP_006199.2:n.556+254C>T