Canonical Allele Identifier: CA203858
Gene: BRAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 202197
dbSNP Id: rs794729222
gnomAD v4: 7-2538678-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2538678C>T , CM000669.2:g.2538678C>T GRCh38
NC_000007.13:g.2578312C>T , CM000669.1:g.2578312C>T GRCh37
NC_000007.12:g.2544838C>T NCBI36
NG_032167.1:g.22081G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340611.9:c.1857G>A MANE Select ENSP00000339637.4:p.Trp619Ter
ENST00000340611.8:c.1857G>A ENSP00000339637.4:p.Trp619Ter
ENST00000467558.5:n.3643G>A
ENST00000469750.5:n.4429G>A
ENST00000473879.1:n.400G>A
ENST00000493232.5:n.4563G>A
NM_152743.3:c.1857G>A NP_689956.2:p.Trp619Ter
XM_005249643.3:c.2037G>A XP_005249700.1:p.Trp679Ter
XM_011515177.1:c.2121G>A XP_011513479.1:p.Trp707Ter
XM_011515178.1:c.2121G>A XP_011513480.1:p.Trp707Ter
XM_011515179.1:c.2118G>A XP_011513481.1:p.Trp706Ter
XM_011515180.1:c.2091G>A XP_011513482.1:p.Trp697Ter
XM_011515181.1:c.1941G>A XP_011513483.1:p.Trp647Ter
XM_011515182.1:c.2121G>A XP_011513484.1:p.Trp707Ter
XM_011515183.1:c.1596G>A XP_011513485.1:p.Trp532Ter
XM_011515184.1:c.1596G>A XP_011513486.1:p.Trp532Ter
XM_011515185.1:c.1857G>A XP_011513487.1:p.Trp619Ter
XM_011515186.1:c.*4G>A XP_011513488.1:n.*4G>A
XM_011515187.1:c.693G>A XP_011513489.1:p.Trp231Ter
NM_001350626.1:c.2037G>A NP_001337555.1:p.Trp679Ter
NM_001350627.1:c.1332G>A NP_001337556.1:p.Trp444Ter
NR_146879.1:n.2274G>A
XM_011515177.2:c.2121G>A XP_011513479.1:p.Trp707Ter
XM_011515179.2:c.2118G>A XP_011513481.1:p.Trp706Ter
XM_011515181.2:c.1941G>A XP_011513483.1:p.Trp647Ter
XM_011515182.2:c.2121G>A XP_011513484.1:p.Trp707Ter
XM_011515184.3:c.1596G>A XP_011513486.1:p.Trp532Ter
XM_011515186.2:c.*4G>A XP_011513488.1:n.*4G>A
XM_017011833.1:c.2034G>A XP_016867322.1:p.Trp678Ter
XM_017011834.1:c.1854G>A XP_016867323.1:p.Trp618Ter
XM_017011836.2:c.*4G>A XP_016867325.1:n.*4G>A
XM_024446682.1:c.693G>A XP_024302450.1:p.Trp231Ter
NM_152743.4:c.1857G>A MANE Select NP_689956.2:p.Trp619Ter
NM_001350626.2:c.2037G>A NP_001337555.1:p.Trp679Ter
NM_001350627.2:c.1332G>A NP_001337556.1:p.Trp444Ter
NR_146879.2:n.2040G>A