Canonical Allele Identifier: CA365652381

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198242G>C (hg19) ; chr6:g.131877102G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877102G>C , CM000668.2:g.131877102G>C	GRCh38
NC_000006.11:g.132198242G>C , CM000668.1:g.132198242G>C	GRCh37
NC_000006.10:g.132239935G>C	NCBI36
NG_008206.1:g.74087G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683687.1:n.706G>C
ENST00000684536.1:n.332G>C
ENST00000647893.1:c.1834G>C MANE Select	ENSP00000498074.1:p.Val612Leu
ENST00000647981.1:n.519G>C
ENST00000650437.1:c.1325G>C
ENST00000360971.6:c.1834G>C	ENSP00000354238.2:p.Val612Leu
ENST00000459624.1:n.878G>C
ENST00000513998.5:c.*671G>C	ENSP00000422424.1:n.*671G>C
NM_006208.2:c.1834G>C	NP_006199.2:p.Val612Leu
XM_011535896.1:c.724G>C	XP_011534198.1:p.Val242Leu
NM_006208.3:c.1834G>C MANE Select	NP_006199.2:p.Val612Leu