Canonical Allele Identifier: CA365652223

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198206T>G (hg19) ; chr6:g.131877066T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877066T>G , CM000668.2:g.131877066T>G	GRCh38
NC_000006.11:g.132198206T>G , CM000668.1:g.132198206T>G	GRCh37
NC_000006.10:g.132239899T>G	NCBI36
NG_008206.1:g.74051T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683687.1:n.670T>G
ENST00000684536.1:n.296T>G
ENST00000647893.1:c.1798T>G MANE Select	ENSP00000498074.1:p.Tyr600Asp
ENST00000647981.1:n.483T>G
ENST00000650437.1:c.1289T>G
ENST00000360971.6:c.1798T>G	ENSP00000354238.2:p.Tyr600Asp
ENST00000459624.1:n.842T>G
ENST00000513998.5:c.*635T>G	ENSP00000422424.1:n.*635T>G
NM_006208.2:c.1798T>G	NP_006199.2:p.Tyr600Asp
XM_011535896.1:c.688T>G	XP_011534198.1:p.Tyr230Asp
NM_006208.3:c.1798T>G MANE Select	NP_006199.2:p.Tyr600Asp