Canonical Allele Identifier: CA365652625
Gene: ENPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877157C>T , CM000668.2:g.131877157C>T GRCh38
NC_000006.11:g.132198297C>T , CM000668.1:g.132198297C>T GRCh37
NC_000006.10:g.132239990C>T NCBI36
NG_008206.1:g.74142C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683687.1:n.761C>T
ENST00000684536.1:n.387C>T
ENST00000647893.1:c.1889C>T MANE Select ENSP00000498074.1:p.Pro630Leu
ENST00000647981.1:n.574C>T
ENST00000650437.1:c.1380C>T
ENST00000360971.6:c.1889C>T ENSP00000354238.2:p.Pro630Leu
ENST00000459624.1:n.933C>T
ENST00000513998.5:c.*726C>T ENSP00000422424.1:n.*726C>T
NM_006208.2:c.1889C>T NP_006199.2:p.Pro630Leu
XM_011535896.1:c.779C>T XP_011534198.1:p.Pro260Leu
NM_006208.3:c.1889C>T MANE Select NP_006199.2:p.Pro630Leu