Canonical Allele Identifier: CA366628096
Gene: BRAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1354679314
gnomAD v2: 7-2579435-G-T
gnomAD v4: 7-2539801-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2539801G>T , CM000669.2:g.2539801G>T GRCh38
NC_000007.13:g.2579435G>T , CM000669.1:g.2579435G>T GRCh37
NC_000007.12:g.2545961G>T NCBI36
NG_032167.1:g.20958C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340611.9:c.1483C>A MANE Select ENSP00000339637.4:p.Pro495Thr
ENST00000340611.8:c.1483C>A ENSP00000339637.4:p.Pro495Thr
ENST00000467558.5:n.2855C>A
ENST00000469750.5:n.4055C>A
ENST00000473879.1:n.199C>A
ENST00000493232.5:n.4219C>A
NM_152743.3:c.1483C>A NP_689956.2:p.Pro495Thr
XM_005249643.3:c.1483C>A XP_005249700.1:p.Pro495Thr
XM_011515177.1:c.1567C>A XP_011513479.1:p.Pro523Thr
XM_011515178.1:c.1567C>A XP_011513480.1:p.Pro523Thr
XM_011515179.1:c.1564C>A XP_011513481.1:p.Pro522Thr
XM_011515180.1:c.1537C>A XP_011513482.1:p.Pro513Thr
XM_011515181.1:c.1567C>A XP_011513483.1:p.Pro523Thr
XM_011515182.1:c.1567C>A XP_011513484.1:p.Pro523Thr
XM_011515183.1:c.1042C>A XP_011513485.1:p.Pro348Thr
XM_011515184.1:c.1042C>A XP_011513486.1:p.Pro348Thr
XM_011515185.1:c.1483C>A XP_011513487.1:p.Pro495Thr
XM_011515186.1:c.1567C>A XP_011513488.1:p.Pro523Thr
XM_011515187.1:c.139C>A XP_011513489.1:p.Pro47Thr
NM_001350626.1:c.1483C>A NP_001337555.1:p.Pro495Thr
NM_001350627.1:c.958C>A NP_001337556.1:p.Pro320Thr
NR_146879.1:n.1900C>A
XM_011515177.2:c.1567C>A XP_011513479.1:p.Pro523Thr
XM_011515179.2:c.1564C>A XP_011513481.1:p.Pro522Thr
XM_011515181.2:c.1567C>A XP_011513483.1:p.Pro523Thr
XM_011515182.2:c.1567C>A XP_011513484.1:p.Pro523Thr
XM_011515184.3:c.1042C>A XP_011513486.1:p.Pro348Thr
XM_011515186.2:c.1567C>A XP_011513488.1:p.Pro523Thr
XM_017011833.1:c.1480C>A XP_016867322.1:p.Pro494Thr
XM_017011834.1:c.1480C>A XP_016867323.1:p.Pro494Thr
XM_017011836.2:c.1483C>A XP_016867325.1:p.Pro495Thr
XM_024446682.1:c.139C>A XP_024302450.1:p.Pro47Thr
NM_152743.4:c.1483C>A MANE Select NP_689956.2:p.Pro495Thr
NM_001350626.2:c.1483C>A NP_001337555.1:p.Pro495Thr
NM_001350627.2:c.958C>A NP_001337556.1:p.Pro320Thr
NR_146879.2:n.1666C>A