Canonical Allele Identifier: CA4002625
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 355354
ClinVar RCV Id: RCV000281165 RCV000375180 RCV000592971 RCV004544664
dbSNP Id: rs73541508
ExAC: 6:132211630 A / T
gnomAD v2: 6-132211630-A-T
gnomAD v3: 6-131890490-A-T
gnomAD v4: 6-131890490-A-T
MyVariant Identifiers: chr6:g.132211630A>T (hg19) chr6:g.131890490A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890490A>T , CM000668.2:g.131890490A>T GRCh38
NC_000006.11:g.132211630A>T , CM000668.1:g.132211630A>T GRCh37
NC_000006.10:g.132253323A>T NCBI36
NG_008206.1:g.87475A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1188A>T
ENST00000647893.1:c.2757A>T MANE Select ENSP00000498074.1:p.Pro919=
ENST00000360971.6:c.2757A>T ENSP00000354238.2:p.Pro919=
ENST00000513998.5:c.*1594A>T ENSP00000422424.1:n.*1594A>T
NM_006208.2:c.2757A>T NP_006199.2:p.Pro919=
XM_011535896.1:c.1647A>T XP_011534198.1:p.Pro549=
NM_006208.3:c.2757A>T MANE Select NP_006199.2:p.Pro919=
Search 100 bp 5'
Search 100 bp 3'