Canonical Allele Identifier: CA365661215
Gene: ENPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851167C>G , CM000668.2:g.131851167C>G GRCh38
NC_000006.11:g.132172307C>G , CM000668.1:g.132172307C>G GRCh37
NC_000006.10:g.132214000C>G NCBI36
NG_008206.1:g.48152C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647893.1:c.456C>G MANE Select ENSP00000498074.1:p.Phe152Leu
ENST00000650147.1:c.134C>G
ENST00000650437.1:c.108+1061C>G
ENST00000360971.6:c.456C>G ENSP00000354238.2:p.Phe152Leu
ENST00000486853.1:n.476C>G
ENST00000513998.5:c.456C>G ENSP00000422424.1:p.Phe152Leu
NM_006208.2:c.456C>G NP_006199.2:p.Phe152Leu
NM_006208.3:c.456C>G MANE Select NP_006199.2:p.Phe152Leu