Canonical Allele Identifier: CA152666231
Gene: BRAT1 HGNC NCBI

Linked Data

dbSNP Id: rs906327946
gnomAD v3: 7-2539823-G-C
gnomAD v4: 7-2539823-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2539823G>C , CM000669.2:g.2539823G>C GRCh38
NC_000007.13:g.2579457G>C , CM000669.1:g.2579457G>C GRCh37
NC_000007.12:g.2545983G>C NCBI36
NG_032167.1:g.20936C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340611.9:c.1461C>G MANE Select ENSP00000339637.4:p.Cys487Trp
ENST00000340611.8:c.1461C>G ENSP00000339637.4:p.Cys487Trp
ENST00000467558.5:n.2833C>G
ENST00000469750.5:n.4033C>G
ENST00000473879.1:n.177C>G
ENST00000493232.5:n.4197C>G
NM_152743.3:c.1461C>G NP_689956.2:p.Cys487Trp
XM_005249643.3:c.1461C>G XP_005249700.1:p.Cys487Trp
XM_011515177.1:c.1545C>G XP_011513479.1:p.Cys515Trp
XM_011515178.1:c.1545C>G XP_011513480.1:p.Cys515Trp
XM_011515179.1:c.1542C>G XP_011513481.1:p.Cys514Trp
XM_011515180.1:c.1515C>G XP_011513482.1:p.Cys505Trp
XM_011515181.1:c.1545C>G XP_011513483.1:p.Cys515Trp
XM_011515182.1:c.1545C>G XP_011513484.1:p.Cys515Trp
XM_011515183.1:c.1020C>G XP_011513485.1:p.Cys340Trp
XM_011515184.1:c.1020C>G XP_011513486.1:p.Cys340Trp
XM_011515185.1:c.1461C>G XP_011513487.1:p.Cys487Trp
XM_011515186.1:c.1545C>G XP_011513488.1:p.Cys515Trp
XM_011515187.1:c.117C>G XP_011513489.1:p.Cys39Trp
NM_001350626.1:c.1461C>G NP_001337555.1:p.Cys487Trp
NM_001350627.1:c.936C>G NP_001337556.1:p.Cys312Trp
NR_146879.1:n.1878C>G
XM_011515177.2:c.1545C>G XP_011513479.1:p.Cys515Trp
XM_011515179.2:c.1542C>G XP_011513481.1:p.Cys514Trp
XM_011515181.2:c.1545C>G XP_011513483.1:p.Cys515Trp
XM_011515182.2:c.1545C>G XP_011513484.1:p.Cys515Trp
XM_011515184.3:c.1020C>G XP_011513486.1:p.Cys340Trp
XM_011515186.2:c.1545C>G XP_011513488.1:p.Cys515Trp
XM_017011833.1:c.1458C>G XP_016867322.1:p.Cys486Trp
XM_017011834.1:c.1458C>G XP_016867323.1:p.Cys486Trp
XM_017011836.2:c.1461C>G XP_016867325.1:p.Cys487Trp
XM_024446682.1:c.117C>G XP_024302450.1:p.Cys39Trp
NM_152743.4:c.1461C>G MANE Select NP_689956.2:p.Cys487Trp
NM_001350626.2:c.1461C>G NP_001337555.1:p.Cys487Trp
NM_001350627.2:c.936C>G NP_001337556.1:p.Cys312Trp
NR_146879.2:n.1644C>G