Canonical Allele Identifier: CA366628354
Gene: BRAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1288869351
gnomAD v2: 7-2579491-C-T
gnomAD v4: 7-2539857-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2539857C>T , CM000669.2:g.2539857C>T GRCh38
NC_000007.13:g.2579491C>T , CM000669.1:g.2579491C>T GRCh37
NC_000007.12:g.2546017C>T NCBI36
NG_032167.1:g.20902G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340611.9:c.1427G>A MANE Select ENSP00000339637.4:p.Arg476Lys
ENST00000340611.8:c.1427G>A ENSP00000339637.4:p.Arg476Lys
ENST00000467558.5:n.2799G>A
ENST00000469750.5:n.3999G>A
ENST00000473879.1:n.143G>A
ENST00000493232.5:n.4163G>A
NM_152743.3:c.1427G>A NP_689956.2:p.Arg476Lys
XM_005249643.3:c.1427G>A XP_005249700.1:p.Arg476Lys
XM_011515177.1:c.1511G>A XP_011513479.1:p.Arg504Lys
XM_011515178.1:c.1511G>A XP_011513480.1:p.Arg504Lys
XM_011515179.1:c.1508G>A XP_011513481.1:p.Arg503Lys
XM_011515180.1:c.1481G>A XP_011513482.1:p.Arg494Lys
XM_011515181.1:c.1511G>A XP_011513483.1:p.Arg504Lys
XM_011515182.1:c.1511G>A XP_011513484.1:p.Arg504Lys
XM_011515183.1:c.986G>A XP_011513485.1:p.Arg329Lys
XM_011515184.1:c.986G>A XP_011513486.1:p.Arg329Lys
XM_011515185.1:c.1427G>A XP_011513487.1:p.Arg476Lys
XM_011515186.1:c.1511G>A XP_011513488.1:p.Arg504Lys
XM_011515187.1:c.83G>A XP_011513489.1:p.Arg28Lys
NM_001350626.1:c.1427G>A NP_001337555.1:p.Arg476Lys
NM_001350627.1:c.902G>A NP_001337556.1:p.Arg301Lys
NR_146879.1:n.1844G>A
XM_011515177.2:c.1511G>A XP_011513479.1:p.Arg504Lys
XM_011515179.2:c.1508G>A XP_011513481.1:p.Arg503Lys
XM_011515181.2:c.1511G>A XP_011513483.1:p.Arg504Lys
XM_011515182.2:c.1511G>A XP_011513484.1:p.Arg504Lys
XM_011515184.3:c.986G>A XP_011513486.1:p.Arg329Lys
XM_011515186.2:c.1511G>A XP_011513488.1:p.Arg504Lys
XM_017011833.1:c.1424G>A XP_016867322.1:p.Arg475Lys
XM_017011834.1:c.1424G>A XP_016867323.1:p.Arg475Lys
XM_017011836.2:c.1427G>A XP_016867325.1:p.Arg476Lys
XM_024446682.1:c.83G>A XP_024302450.1:p.Arg28Lys
NM_152743.4:c.1427G>A MANE Select NP_689956.2:p.Arg476Lys
NM_001350626.2:c.1427G>A NP_001337555.1:p.Arg476Lys
NM_001350627.2:c.902G>A NP_001337556.1:p.Arg301Lys
NR_146879.2:n.1610G>A