Canonical Allele Identifier: CA365652234
Gene: ENPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877068T>G , CM000668.2:g.131877068T>G GRCh38
NC_000006.11:g.132198208T>G , CM000668.1:g.132198208T>G GRCh37
NC_000006.10:g.132239901T>G NCBI36
NG_008206.1:g.74053T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000683687.1:n.672T>G
ENST00000684536.1:n.298T>G
ENST00000647893.1:c.1800T>G MANE Select ENSP00000498074.1:p.Tyr600Ter
ENST00000647981.1:n.485T>G
ENST00000650437.1:c.1291T>G
ENST00000360971.6:c.1800T>G ENSP00000354238.2:p.Tyr600Ter
ENST00000459624.1:n.844T>G
ENST00000513998.5:c.*637T>G ENSP00000422424.1:n.*637T>G
NM_006208.2:c.1800T>G NP_006199.2:p.Tyr600Ter
XM_011535896.1:c.690T>G XP_011534198.1:p.Tyr230Ter
NM_006208.3:c.1800T>G MANE Select NP_006199.2:p.Tyr600Ter