Canonical Allele Identifier: CA365662210
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132172383A>C (hg19) chr6:g.131851243A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851243A>C , CM000668.2:g.131851243A>C GRCh38
NC_000006.11:g.132172383A>C , CM000668.1:g.132172383A>C GRCh37
NC_000006.10:g.132214076A>C NCBI36
NG_008206.1:g.48228A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.532A>C MANE Select ENSP00000498074.1:p.Ile178Leu
ENST00000650147.1:c.210A>C
ENST00000650437.1:c.108+1137A>C
ENST00000360971.6:c.532A>C ENSP00000354238.2:p.Ile178Leu
ENST00000486853.1:n.552A>C
ENST00000513998.5:c.532A>C ENSP00000422424.1:p.Ile178Leu
NM_006208.2:c.532A>C NP_006199.2:p.Ile178Leu
NM_006208.3:c.532A>C MANE Select NP_006199.2:p.Ile178Leu
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