Canonical Allele Identifier: CA4127886
Gene: BRAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 472932
dbSNP Id: rs778690788
gnomAD v2: 7-2581055-G-C
gnomAD v3: 7-2541421-G-C
gnomAD v4: 7-2541421-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2541421G>C , CM000669.2:g.2541421G>C GRCh38
NC_000007.13:g.2581055G>C , CM000669.1:g.2581055G>C GRCh37
NC_000007.12:g.2547581G>C NCBI36
NG_032167.1:g.19338C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340611.9:c.1198C>G MANE Select ENSP00000339637.4:p.Leu400Val
ENST00000340611.8:c.1198C>G ENSP00000339637.4:p.Leu400Val
ENST00000467558.5:n.1480C>G
ENST00000469750.5:n.2680C>G
ENST00000493232.5:n.2599C>G
NM_152743.3:c.1198C>G NP_689956.2:p.Leu400Val
XM_005249643.3:c.1198C>G XP_005249700.1:p.Leu400Val
XM_011515177.1:c.1198C>G XP_011513479.1:p.Leu400Val
XM_011515178.1:c.1198C>G XP_011513480.1:p.Leu400Val
XM_011515179.1:c.1195C>G XP_011513481.1:p.Leu399Val
XM_011515180.1:c.1168C>G XP_011513482.1:p.Leu390Val
XM_011515181.1:c.1198C>G XP_011513483.1:p.Leu400Val
XM_011515182.1:c.1198C>G XP_011513484.1:p.Leu400Val
XM_011515183.1:c.673C>G XP_011513485.1:p.Leu225Val
XM_011515184.1:c.673C>G XP_011513486.1:p.Leu225Val
XM_011515185.1:c.1198C>G XP_011513487.1:p.Leu400Val
XM_011515186.1:c.1198C>G XP_011513488.1:p.Leu400Val
NM_001350626.1:c.1198C>G NP_001337555.1:p.Leu400Val
NM_001350627.1:c.673C>G NP_001337556.1:p.Leu225Val
NR_146879.1:n.1491C>G
XM_011515177.2:c.1198C>G XP_011513479.1:p.Leu400Val
XM_011515179.2:c.1195C>G XP_011513481.1:p.Leu399Val
XM_011515181.2:c.1198C>G XP_011513483.1:p.Leu400Val
XM_011515182.2:c.1198C>G XP_011513484.1:p.Leu400Val
XM_011515184.3:c.673C>G XP_011513486.1:p.Leu225Val
XM_011515186.2:c.1198C>G XP_011513488.1:p.Leu400Val
XM_017011833.1:c.1195C>G XP_016867322.1:p.Leu399Val
XM_017011834.1:c.1195C>G XP_016867323.1:p.Leu399Val
XM_017011836.2:c.1198C>G XP_016867325.1:p.Leu400Val
NM_152743.4:c.1198C>G MANE Select NP_689956.2:p.Leu400Val
NM_001350626.2:c.1198C>G NP_001337555.1:p.Leu400Val
NM_001350627.2:c.673C>G NP_001337556.1:p.Leu225Val
NR_146879.2:n.1257C>G