Canonical Allele Identifier: CA452161705
Gene: ENPP1 HGNC NCBI

Linked Data

gnomAD v4: 6-131890421-T-C
MyVariant Identifiers: chr6:g.132211561T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890421T>C , CM000668.2:g.131890421T>C GRCh38
NC_000006.11:g.132211561T>C , CM000668.1:g.132211561T>C GRCh37
NC_000006.10:g.132253254T>C NCBI36
NG_008206.1:g.87406T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1119T>C
ENST00000647893.1:c.2688T>C MANE Select ENSP00000498074.1:p.Thr896=
ENST00000360971.6:c.2688T>C ENSP00000354238.2:p.Thr896=
ENST00000513998.5:c.*1525T>C ENSP00000422424.1:n.*1525T>C
NM_006208.2:c.2688T>C NP_006199.2:p.Thr896=
XM_011535896.1:c.1578T>C XP_011534198.1:p.Thr526=
NM_006208.3:c.2688T>C MANE Select NP_006199.2:p.Thr896=
Search 100 bp 5'
Search 100 bp 3'