Canonical Allele Identifier: CA365652501

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198272G>T (hg19) ; chr6:g.131877132G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877132G>T , CM000668.2:g.131877132G>T	GRCh38
NC_000006.11:g.132198272G>T , CM000668.1:g.132198272G>T	GRCh37
NC_000006.10:g.132239965G>T	NCBI36
NG_008206.1:g.74117G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683687.1:n.736G>T
ENST00000684536.1:n.362G>T
ENST00000647893.1:c.1864G>T MANE Select	ENSP00000498074.1:p.Asp622Tyr
ENST00000647981.1:n.549G>T
ENST00000650437.1:c.1355G>T
ENST00000360971.6:c.1864G>T	ENSP00000354238.2:p.Asp622Tyr
ENST00000459624.1:n.908G>T
ENST00000513998.5:c.*701G>T	ENSP00000422424.1:n.*701G>T
NM_006208.2:c.1864G>T	NP_006199.2:p.Asp622Tyr
XM_011535896.1:c.754G>T	XP_011534198.1:p.Asp252Tyr
NM_006208.3:c.1864G>T MANE Select	NP_006199.2:p.Asp622Tyr