Canonical Allele Identifier: CA365652203

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198203G>C (hg19) ; chr6:g.131877063G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877063G>C , CM000668.2:g.131877063G>C	GRCh38
NC_000006.11:g.132198203G>C , CM000668.1:g.132198203G>C	GRCh37
NC_000006.10:g.132239896G>C	NCBI36
NG_008206.1:g.74048G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.667G>C
ENST00000684536.1:n.293G>C
ENST00000647893.1:c.1795G>C MANE Select	ENSP00000498074.1:p.Val599Leu
ENST00000647981.1:n.480G>C
ENST00000650437.1:c.1286G>C
ENST00000360971.6:c.1795G>C	ENSP00000354238.2:p.Val599Leu
ENST00000459624.1:n.839G>C
ENST00000513998.5:c.*632G>C	ENSP00000422424.1:n.*632G>C
NM_006208.2:c.1795G>C	NP_006199.2:p.Val599Leu
XM_011535896.1:c.685G>C	XP_011534198.1:p.Val229Leu
NM_006208.3:c.1795G>C MANE Select	NP_006199.2:p.Val599Leu