Canonical Allele Identifier: CA365661009

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132172291G>T (hg19) ; chr6:g.131851151G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851151G>T , CM000668.2:g.131851151G>T	GRCh38
NC_000006.11:g.132172291G>T , CM000668.1:g.132172291G>T	GRCh37
NC_000006.10:g.132213984G>T	NCBI36
NG_008206.1:g.48136G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.440G>T MANE Select	ENSP00000498074.1:p.Trp147Leu
ENST00000650147.1:c.118G>T
ENST00000650437.1:c.108+1045G>T
ENST00000360971.6:c.440G>T	ENSP00000354238.2:p.Trp147Leu
ENST00000486853.1:n.460G>T
ENST00000513998.5:c.440G>T	ENSP00000422424.1:p.Trp147Leu
NM_006208.2:c.440G>T	NP_006199.2:p.Trp147Leu
NM_006208.3:c.440G>T MANE Select	NP_006199.2:p.Trp147Leu