Canonical Allele Identifier: CA10622937
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 355356
ClinVar RCV Id: RCV000287044 RCV000341873
dbSNP Id: rs147396850
gnomAD v2: 6-132211747-C-T
gnomAD v3: 6-131890607-C-T
gnomAD v4: 6-131890607-C-T
MyVariant Identifiers: chr6:g.132211747C>T (hg19) chr6:g.131890607C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890607C>T , CM000668.2:g.131890607C>T GRCh38
NC_000006.11:g.132211747C>T , CM000668.1:g.132211747C>T GRCh37
NC_000006.10:g.132253440C>T NCBI36
NG_008206.1:g.87592C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1305C>T
ENST00000647893.1:c.*96C>T MANE Select ENSP00000498074.1:n.*96C>T
ENST00000360971.6:c.*96C>T ENSP00000354238.2:n.*96C>T
ENST00000513998.5:c.*1711C>T ENSP00000422424.1:n.*1711C>T
NM_006208.2:c.*96C>T NP_006199.2:n.*96C>T
XM_011535896.1:c.*96C>T XP_011534198.1:n.*96C>T
NM_006208.3:c.*96C>T MANE Select NP_006199.2:n.*96C>T
Search 100 bp 5'
Search 100 bp 3'