Canonical Allele Identifier: CA4002618
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs752343485
ExAC: 6:132211587 A / G
gnomAD v2: 6-132211587-A-G
gnomAD v4: 6-131890447-A-G
MyVariant Identifiers: chr6:g.132211587A>G (hg19) chr6:g.131890447A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890447A>G , CM000668.2:g.131890447A>G GRCh38
NC_000006.11:g.132211587A>G , CM000668.1:g.132211587A>G GRCh37
NC_000006.10:g.132253280A>G NCBI36
NG_008206.1:g.87432A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1145A>G
ENST00000647893.1:c.2714A>G MANE Select ENSP00000498074.1:p.Lys905Arg
ENST00000360971.6:c.2714A>G ENSP00000354238.2:p.Lys905Arg
ENST00000513998.5:c.*1551A>G ENSP00000422424.1:n.*1551A>G
NM_006208.2:c.2714A>G NP_006199.2:p.Lys905Arg
XM_011535896.1:c.1604A>G XP_011534198.1:p.Lys535Arg
NM_006208.3:c.2714A>G MANE Select NP_006199.2:p.Lys905Arg
Search 100 bp 5'
Search 100 bp 3'