Canonical Allele Identifier: CA570098485
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1322910233
gnomAD v2: 6-132182676-C-T
gnomAD v3: 6-131861536-C-T
gnomAD v4: 6-131861536-C-T
MyVariant Identifiers: chr6:g.132182676C>T (hg19) chr6:g.131861536C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131861536C>T , CM000668.2:g.131861536C>T GRCh38
NC_000006.11:g.132182676C>T , CM000668.1:g.132182676C>T GRCh37
NC_000006.10:g.132224369C>T NCBI36
NG_008206.1:g.58521C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.916-59C>T MANE Select ENSP00000498074.1:n.916-59C>T
ENST00000650147.1:c.533-59C>T
ENST00000650437.1:c.407-59C>T
ENST00000360971.6:c.916-59C>T ENSP00000354238.2:n.916-59C>T
ENST00000513998.5:c.916-59C>T ENSP00000422424.1:n.916-59C>T
NM_006208.2:c.916-59C>T NP_006199.2:n.916-59C>T
NM_006208.3:c.916-59C>T MANE Select NP_006199.2:n.916-59C>T
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