Canonical Allele Identifier: CA365662186

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132172381G>T (hg19) ; chr6:g.131851241G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851241G>T , CM000668.2:g.131851241G>T	GRCh38
NC_000006.11:g.132172381G>T , CM000668.1:g.132172381G>T	GRCh37
NC_000006.10:g.132214074G>T	NCBI36
NG_008206.1:g.48226G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.530G>T MANE Select	ENSP00000498074.1:p.Cys177Phe
ENST00000650147.1:c.208G>T
ENST00000650437.1:c.108+1135G>T
ENST00000360971.6:c.530G>T	ENSP00000354238.2:p.Cys177Phe
ENST00000486853.1:n.550G>T
ENST00000513998.5:c.530G>T	ENSP00000422424.1:p.Cys177Phe
NM_006208.2:c.530G>T	NP_006199.2:p.Cys177Phe
NM_006208.3:c.530G>T MANE Select	NP_006199.2:p.Cys177Phe