Canonical Allele Identifier: CA1664257238
Community Standard Title: NM_006208.3(ENPP1):c.783C= (p.Tyr261=)
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131858735C= , CM000668.2:g.131858735C= GRCh38
NC_000006.11:g.132179875C= , CM000668.1:g.132179875C= GRCh37
NC_000006.10:g.132221568C= NCBI36
NG_008206.1:g.55720C=

Transcript Alleles

HGVS Amino-acid Change
NM_006208.3:c.783C= MANE Select NP_006199.2:p.Tyr261=
ENST00000647893.1:c.783C= MANE Select ENSP00000498074.1:p.Tyr261=
NM_006208.2:c.783C= NP_006199.2:p.Tyr261=
ENST00000360971.6:c.783C= ENSP00000354238.2:p.Tyr261=
ENST00000513998.5:c.783C= ENSP00000422424.1:p.Tyr261=
ENST00000650147.1:c.400C=
ENST00000650437.1:c.274C=