Canonical Allele Identifier: CA365652148

Gene: ENPP1

Linked Data

• gnomAD v4: 6-131877051-C-G
• MyVariant Identifiers: chr6:g.132198191C>G (hg19) ; chr6:g.131877051C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877051C>G , CM000668.2:g.131877051C>G	GRCh38
NC_000006.11:g.132198191C>G , CM000668.1:g.132198191C>G	GRCh37
NC_000006.10:g.132239884C>G	NCBI36
NG_008206.1:g.74036C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683687.1:n.655C>G
ENST00000684536.1:n.281C>G
ENST00000647893.1:c.1783C>G MANE Select	ENSP00000498074.1:p.Leu595Val
ENST00000647981.1:n.468C>G
ENST00000650437.1:c.1274C>G
ENST00000360971.6:c.1783C>G	ENSP00000354238.2:p.Leu595Val
ENST00000459624.1:n.827C>G
ENST00000513998.5:c.*620C>G	ENSP00000422424.1:n.*620C>G
NM_006208.2:c.1783C>G	NP_006199.2:p.Leu595Val
XM_011535896.1:c.673C>G	XP_011534198.1:p.Leu225Val
NM_006208.3:c.1783C>G MANE Select	NP_006199.2:p.Leu595Val