Canonical Allele Identifier: CA2541081
Gene: CD200R1L HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.112827472C>G
GRCh37 chr3:g.112546319C>G
Revel Score:
ENST00000398214 0.050
ENST00000488794 (MANE Select) 0.050
ENST00000448932 0.050
gnomAD v2:
3:112546319 C / G
gnomAD v4:
chr3-112827472-C-G
Joint Max Group AF 0.00005937 (SAS)
Exomes Max Group AF 0.00006246 (SAS)
ClinVar RCV:
RCV004098825
ClinVar Variation:
2238317
dbSNP:
766740019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.112827472C>G , CM000665.2:g.112827472C>G GRCh38
NC_000003.11:g.112546319C>G , CM000665.1:g.112546319C>G GRCh37
NC_000003.10:g.114029009C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000488794.6:c.262G>C MANE Select ENSP00000418413.1:p.Asp88His
ENST00000398214.5:c.325G>C ENSP00000381272.1:p.Asp109His
ENST00000448932.4:c.262G>C ENSP00000415132.2:p.Asp88His
ENST00000486723.1:c.*324G>C ENSP00000420461.1:n.*324G>C
ENST00000488794.5:c.262G>C ENSP00000418413.1:p.Asp88His
ENST00000617549.3:c.280G>C ENSP00000477541.2:p.Asp94His
NM_001008784.2:c.325G>C NP_001008784.2:p.Asp109His
NM_001199215.1:c.262G>C NP_001186144.1:p.Asp88His
XM_011512761.1:c.262G>C XP_011511063.1:p.Asp88His
XM_011512762.1:c.262G>C XP_011511064.1:p.Asp88His
XM_011512763.1:c.262G>C XP_011511065.1:p.Asp88His
XM_011512764.1:c.262G>C XP_011511066.1:p.Asp88His
XM_011512763.3:c.262G>C XP_011511065.1:p.Asp88His
XM_017006300.1:c.262G>C XP_016861789.1:p.Asp88His
NM_001370552.1:c.262G>C NP_001357481.1:p.Asp88His
NM_001008784.3:c.325G>C NP_001008784.2:p.Asp109His
NM_001199215.2:c.262G>C NP_001186144.1:p.Asp88His
NM_001370552.2:c.262G>C NP_001357481.1:p.Asp88His
NM_001008784.4:c.325G>C NP_001008784.2:p.Asp109His
NM_001199215.3:c.262G>C MANE Select NP_001186144.1:p.Asp88His
NM_001370552.3:c.262G>C NP_001357481.1:p.Asp88His
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