Canonical Allele Identifier: CA147908698
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1029814550
gnomAD v2: 6-132211636-T-C
gnomAD v3: 6-131890496-T-C
gnomAD v4: 6-131890496-T-C
MyVariant Identifiers: chr6:g.132211636T>C (hg19) chr6:g.131890496T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890496T>C , CM000668.2:g.131890496T>C GRCh38
NC_000006.11:g.132211636T>C , CM000668.1:g.132211636T>C GRCh37
NC_000006.10:g.132253329T>C NCBI36
NG_008206.1:g.87481T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1194T>C
ENST00000647893.1:c.2763T>C MANE Select ENSP00000498074.1:p.Phe921=
ENST00000360971.6:c.2763T>C ENSP00000354238.2:p.Phe921=
ENST00000513998.5:c.*1600T>C ENSP00000422424.1:n.*1600T>C
NM_006208.2:c.2763T>C NP_006199.2:p.Phe921=
XM_011535896.1:c.1653T>C XP_011534198.1:p.Phe551=
NM_006208.3:c.2763T>C MANE Select NP_006199.2:p.Phe921=
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