Canonical Allele Identifier: CA365652244
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132198210C>G (hg19) chr6:g.131877070C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877070C>G , CM000668.2:g.131877070C>G GRCh38
NC_000006.11:g.132198210C>G , CM000668.1:g.132198210C>G GRCh37
NC_000006.10:g.132239903C>G NCBI36
NG_008206.1:g.74055C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000683687.1:n.674C>G
ENST00000684536.1:n.300C>G
ENST00000647893.1:c.1802C>G MANE Select ENSP00000498074.1:p.Thr601Arg
ENST00000647981.1:n.487C>G
ENST00000650437.1:c.1293C>G
ENST00000360971.6:c.1802C>G ENSP00000354238.2:p.Thr601Arg
ENST00000459624.1:n.846C>G
ENST00000513998.5:c.*639C>G ENSP00000422424.1:n.*639C>G
NM_006208.2:c.1802C>G NP_006199.2:p.Thr601Arg
XM_011535896.1:c.692C>G XP_011534198.1:p.Thr231Arg
NM_006208.3:c.1802C>G MANE Select NP_006199.2:p.Thr601Arg
Search 100 bp 5'
Search 100 bp 3'