Canonical Allele Identifier: CA452157154

Gene: ENPP1

Linked Data

• dbSNP Id: rs79079368
• gnomAD v3: 6-131877099-C-T
• gnomAD v4: 6-131877099-C-T
• MyVariant Identifiers: chr6:g.132198239C>T (hg19) ; chr6:g.131877099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877099C>T , CM000668.2:g.131877099C>T	GRCh38
NC_000006.11:g.132198239C>T , CM000668.1:g.132198239C>T	GRCh37
NC_000006.10:g.132239932C>T	NCBI36
NG_008206.1:g.74084C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683687.1:n.703C>T
ENST00000684536.1:n.329C>T
ENST00000647893.1:c.1831C>T MANE Select	ENSP00000498074.1:p.Leu611=
ENST00000647981.1:n.516C>T
ENST00000650437.1:c.1322C>T
ENST00000360971.6:c.1831C>T	ENSP00000354238.2:p.Leu611=
ENST00000459624.1:n.875C>T
ENST00000513998.5:c.*668C>T	ENSP00000422424.1:n.*668C>T
NM_006208.2:c.1831C>T	NP_006199.2:p.Leu611=
XM_011535896.1:c.721C>T	XP_011534198.1:p.Leu241=
NM_006208.3:c.1831C>T MANE Select	NP_006199.2:p.Leu611=