Canonical Allele Identifier: CA241048

Gene: ENPP1

Linked Data

• ClinVar Variation Id: 194855
• ClinVar RCV Id: RCV000175320 ; RCV001151670 ; RCV001154709
• dbSNP Id: rs548504035
• ExAC: 6:132198199 T / C
• gnomAD v2: 6-132198199-T-C
• gnomAD v3: 6-131877059-T-C
• gnomAD v4: 6-131877059-T-C
• MyVariant Identifiers: chr6:g.132198199T>C (hg19) ; chr6:g.131877059T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877059T>C , CM000668.2:g.131877059T>C	GRCh38
NC_000006.11:g.132198199T>C , CM000668.1:g.132198199T>C	GRCh37
NC_000006.10:g.132239892T>C	NCBI36
NG_008206.1:g.74044T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.663T>C
ENST00000684536.1:n.289T>C
ENST00000647893.1:c.1791T>C MANE Select	ENSP00000498074.1:p.Asn597=
ENST00000647981.1:n.476T>C
ENST00000650437.1:c.1282T>C
ENST00000360971.6:c.1791T>C	ENSP00000354238.2:p.Asn597=
ENST00000459624.1:n.835T>C
ENST00000513998.5:c.*628T>C	ENSP00000422424.1:n.*628T>C
NM_006208.2:c.1791T>C	NP_006199.2:p.Asn597=
XM_011535896.1:c.681T>C	XP_011534198.1:p.Asn227=
NM_006208.3:c.1791T>C MANE Select	NP_006199.2:p.Asn597=