Canonical Allele Identifier: CA154200

Gene: ORC1

Linked Data

• ClinVar Variation Id: 129860
• ClinVar RCV Id: RCV000117877 ; RCV000304858 ; RCV001511695
• dbSNP Id: rs34521609
• ExAC: 1:52838992 A / G
• gnomAD v2: 1-52838992-A-G
• gnomAD v3: 1-52373320-A-G
• gnomAD v4: 1-52373320-A-G
• MyVariant Identifiers: chr1:g.52838992A>G (hg19) ; chr1:g.52373320A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.52373320A>G , CM000663.2:g.52373320A>G	GRCh38
NC_000001.10:g.52838992A>G , CM000663.1:g.52838992A>G	GRCh37
NC_000001.9:g.52611580A>G	NCBI36
NG_028251.1:g.36152T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371568.8:c.2447T>C MANE Select	ENSP00000360623.3:p.Met816Thr
ENST00000371566.1:c.2447T>C	ENSP00000360621.1:p.Met816Thr
ENST00000371568.7:c.2447T>C	ENSP00000360623.3:p.Met816Thr
NM_001190818.1:c.2447T>C	NP_001177747.1:p.Met816Thr
NM_001190819.1:c.2432T>C	NP_001177748.1:p.Met811Thr
NM_004153.3:c.2447T>C	NP_004144.2:p.Met816Thr
XM_011541527.1:c.1367T>C	XP_011539829.1:p.Met456Thr
XM_011541527.3:c.1367T>C	XP_011539829.1:p.Met456Thr
XM_017001388.2:c.2339T>C	XP_016856877.1:p.Met780Thr
XM_017001389.2:c.1709T>C	XP_016856878.1:p.Met570Thr
NM_004153.4:c.2447T>C MANE Select	NP_004144.2:p.Met816Thr
NM_001190818.2:c.2447T>C	NP_001177747.1:p.Met816Thr
NM_001190819.2:c.2432T>C	NP_001177748.1:p.Met811Thr