Canonical Allele Identifier: CA4002623

Gene: ENPP1

Linked Data

• ClinVar Variation Id: 1984229
• ClinVar RCV Id: RCV002775392 ; RCV004545390
• dbSNP Id: rs371563316
• ExAC: 6:132211613 T / C
• gnomAD v2: 6-132211613-T-C
• gnomAD v3: 6-131890473-T-C
• gnomAD v4: 6-131890473-T-C
• MyVariant Identifiers: chr6:g.132211613T>C (hg19) ; chr6:g.131890473T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131890473T>C , CM000668.2:g.131890473T>C	GRCh38
NC_000006.11:g.132211613T>C , CM000668.1:g.132211613T>C	GRCh37
NC_000006.10:g.132253306T>C	NCBI36
NG_008206.1:g.87458T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684674.1:n.1171T>C
ENST00000647893.1:c.2740T>C MANE Select	ENSP00000498074.1:p.Leu914=
ENST00000360971.6:c.2740T>C	ENSP00000354238.2:p.Leu914=
ENST00000513998.5:c.*1577T>C	ENSP00000422424.1:n.*1577T>C
NM_006208.2:c.2740T>C	NP_006199.2:p.Leu914=
XM_011535896.1:c.1630T>C	XP_011534198.1:p.Leu544=
NM_006208.3:c.2740T>C MANE Select	NP_006199.2:p.Leu914=