Canonical Allele Identifier: CA147936969
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131863968A>C , CM000668.2:g.131863968A>C GRCh38
NC_000006.11:g.132185108A>C , CM000668.1:g.132185108A>C GRCh37
NC_000006.10:g.132226801A>C NCBI36
NG_008206.1:g.60953A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.1026-538A>C MANE Select ENSP00000498074.1:n.1026-538A>C
ENST00000650147.1:c.643-538A>C
ENST00000650437.1:c.517-538A>C
ENST00000360971.6:c.1026-538A>C ENSP00000354238.2:n.1026-538A>C
ENST00000459624.1:n.96-538A>C
ENST00000513998.5:c.1026-538A>C ENSP00000422424.1:n.1026-538A>C
NM_006208.2:c.1026-538A>C NP_006199.2:n.1026-538A>C
NM_006208.3:c.1026-538A>C MANE Select NP_006199.2:n.1026-538A>C