Canonical Allele Identifier: CA4002331

Gene: ENPP1

Linked Data

• ClinVar Variation Id: 2084393
• ClinVar RCV Id: RCV002994681 ; RCV003011116
• dbSNP Id: rs763005831
• ExAC: 6:132198210 C / T
• gnomAD v2: 6-132198210-C-T
• gnomAD v3: 6-131877070-C-T
• gnomAD v4: 6-131877070-C-T
• COSMIC: COSM3173579
• MyVariant Identifiers: chr6:g.132198210C>T (hg19) ; chr6:g.131877070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877070C>T , CM000668.2:g.131877070C>T	GRCh38
NC_000006.11:g.132198210C>T , CM000668.1:g.132198210C>T	GRCh37
NC_000006.10:g.132239903C>T	NCBI36
NG_008206.1:g.74055C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.674C>T
ENST00000684536.1:n.300C>T
ENST00000647893.1:c.1802C>T MANE Select	ENSP00000498074.1:p.Thr601Met
ENST00000647981.1:n.487C>T
ENST00000650437.1:c.1293C>T
ENST00000360971.6:c.1802C>T	ENSP00000354238.2:p.Thr601Met
ENST00000459624.1:n.846C>T
ENST00000513998.5:c.*639C>T	ENSP00000422424.1:n.*639C>T
NM_006208.2:c.1802C>T	NP_006199.2:p.Thr601Met
XM_011535896.1:c.692C>T	XP_011534198.1:p.Thr231Met
NM_006208.3:c.1802C>T MANE Select	NP_006199.2:p.Thr601Met