Canonical Allele Identifier: CA365652430

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198254T>G (hg19) ; chr6:g.131877114T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877114T>G , CM000668.2:g.131877114T>G	GRCh38
NC_000006.11:g.132198254T>G , CM000668.1:g.132198254T>G	GRCh37
NC_000006.10:g.132239947T>G	NCBI36
NG_008206.1:g.74099T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683687.1:n.718T>G
ENST00000684536.1:n.344T>G
ENST00000647893.1:c.1846T>G MANE Select	ENSP00000498074.1:p.Phe616Val
ENST00000647981.1:n.531T>G
ENST00000650437.1:c.1337T>G
ENST00000360971.6:c.1846T>G	ENSP00000354238.2:p.Phe616Val
ENST00000459624.1:n.890T>G
ENST00000513998.5:c.*683T>G	ENSP00000422424.1:n.*683T>G
NM_006208.2:c.1846T>G	NP_006199.2:p.Phe616Val
XM_011535896.1:c.736T>G	XP_011534198.1:p.Phe246Val
NM_006208.3:c.1846T>G MANE Select	NP_006199.2:p.Phe616Val