Canonical Allele Identifier: CA365661586
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132211645A>C (hg19) chr6:g.131890505A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890505A>C , CM000668.2:g.131890505A>C GRCh38
NC_000006.11:g.132211645A>C , CM000668.1:g.132211645A>C GRCh37
NC_000006.10:g.132253338A>C NCBI36
NG_008206.1:g.87490A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1203A>C
ENST00000647893.1:c.2772A>C MANE Select ENSP00000498074.1:p.Glu924Asp
ENST00000360971.6:c.2772A>C ENSP00000354238.2:p.Glu924Asp
ENST00000513998.5:c.*1609A>C ENSP00000422424.1:n.*1609A>C
NM_006208.2:c.2772A>C NP_006199.2:p.Glu924Asp
XM_011535896.1:c.1662A>C XP_011534198.1:p.Glu554Asp
NM_006208.3:c.2772A>C MANE Select NP_006199.2:p.Glu924Asp
Search 100 bp 5'
Search 100 bp 3'