Canonical Allele Identifier: CA1370707
Gene: CR1 HGNC NCBI
COSMIC:
COSM6310173 (not active)
COSM6310174 (not active)
MyVariant.info:
GRCh38 chr1:g.207621975A>G
GRCh37 chr1:g.207795320A>G
Revel Score:
ENST00000367052 0.021
ENST00000367051 0.021
ENST00000367053 0.021
ENST00000400960 0.021
ENST00000367049 (MANE Select) 0.021
gnomAD v2:
1:207795320 A / G
gnomAD v3:
1:207621975 A / G
gnomAD v4:
chr1-207621975-A-G
Joint Max Group AF 0.89319596 (SAS)
Genomes Max Group AF 0.8798057 (SAS)
Exomes Max Group AF 0.89483023 (AMR)
dbSNP:
2296160
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207621975A>G , CM000663.2:g.207621975A>G GRCh38
NC_000001.10:g.207795320A>G , CM000663.1:g.207795320A>G GRCh37
NC_000001.9:g.205861943A>G NCBI36
NG_007481.1:g.130848A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367049.9:c.7255A>G MANE Select ENSP00000356016.4:p.Thr2419Ala
ENST00000367051.6:c.5905A>G ENSP00000356018.1:p.Thr1969Ala
ENST00000367052.6:c.5905A>G ENSP00000356019.1:p.Thr1969Ala
ENST00000367053.6:c.5905A>G ENSP00000356020.1:p.Thr1969Ala
ENST00000400960.7:c.5905A>G ENSP00000383744.2:p.Thr1969Ala
ENST00000367049.8:c.7255A>G ENSP00000356016.4:p.Thr2419Ala
ENST00000367051.5:c.5905A>G ENSP00000356018.1:p.Thr1969Ala
ENST00000367052.5:c.5905A>G ENSP00000356019.1:p.Thr1969Ala
ENST00000367053.5:c.5905A>G ENSP00000356020.1:p.Thr1969Ala
ENST00000400960.6:c.5905A>G ENSP00000383744.2:p.Thr1969Ala
ENST00000529814.1:c.1773A>G
NM_000573.3:c.5905A>G NP_000564.2:p.Thr1969Ala
NM_000651.4:c.7255A>G NP_000642.3:p.Thr2419Ala
XM_006711166.2:c.7270A>G XP_006711229.1:p.Thr2424Ala
XM_011509205.1:c.7270A>G XP_011507507.1:p.Thr2424Ala
NM_000651.5:c.7255A>G NP_000642.3:p.Thr2419Ala
XM_024453287.1:c.5920A>G XP_024309055.1:p.Thr1974Ala
NM_000573.4:c.5905A>G NP_000564.2:p.Thr1969Ala
NM_000651.6:c.7255A>G MANE Select NP_000642.3:p.Thr2419Ala
Search 100 bp 5'
Search 100 bp 3'