Canonical Allele Identifier: CA819074670
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs867732512
gnomAD v3: 6-131890604-T-C
gnomAD v4: 6-131890604-T-C
MyVariant Identifiers: chr6:g.132211744T>C (hg19) chr6:g.131890604T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890604T>C , CM000668.2:g.131890604T>C GRCh38
NC_000006.11:g.132211744T>C , CM000668.1:g.132211744T>C GRCh37
NC_000006.10:g.132253437T>C NCBI36
NG_008206.1:g.87589T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1302T>C
ENST00000647893.1:c.*93T>C MANE Select ENSP00000498074.1:n.*93T>C
ENST00000360971.6:c.*93T>C ENSP00000354238.2:n.*93T>C
ENST00000513998.5:c.*1708T>C ENSP00000422424.1:n.*1708T>C
NM_006208.2:c.*93T>C NP_006199.2:n.*93T>C
XM_011535896.1:c.*93T>C XP_011534198.1:n.*93T>C
NM_006208.3:c.*93T>C MANE Select NP_006199.2:n.*93T>C
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