Canonical Allele Identifier: CA366628276
Gene: BRAT1 HGNC NCBI

Linked Data

gnomAD v4: 7-2539840-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2539840G>T , CM000669.2:g.2539840G>T GRCh38
NC_000007.13:g.2579474G>T , CM000669.1:g.2579474G>T GRCh37
NC_000007.12:g.2546000G>T NCBI36
NG_032167.1:g.20919C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340611.9:c.1444C>A MANE Select ENSP00000339637.4:p.Pro482Thr
ENST00000340611.8:c.1444C>A ENSP00000339637.4:p.Pro482Thr
ENST00000467558.5:n.2816C>A
ENST00000469750.5:n.4016C>A
ENST00000473879.1:n.160C>A
ENST00000493232.5:n.4180C>A
NM_152743.3:c.1444C>A NP_689956.2:p.Pro482Thr
XM_005249643.3:c.1444C>A XP_005249700.1:p.Pro482Thr
XM_011515177.1:c.1528C>A XP_011513479.1:p.Pro510Thr
XM_011515178.1:c.1528C>A XP_011513480.1:p.Pro510Thr
XM_011515179.1:c.1525C>A XP_011513481.1:p.Pro509Thr
XM_011515180.1:c.1498C>A XP_011513482.1:p.Pro500Thr
XM_011515181.1:c.1528C>A XP_011513483.1:p.Pro510Thr
XM_011515182.1:c.1528C>A XP_011513484.1:p.Pro510Thr
XM_011515183.1:c.1003C>A XP_011513485.1:p.Pro335Thr
XM_011515184.1:c.1003C>A XP_011513486.1:p.Pro335Thr
XM_011515185.1:c.1444C>A XP_011513487.1:p.Pro482Thr
XM_011515186.1:c.1528C>A XP_011513488.1:p.Pro510Thr
XM_011515187.1:c.100C>A XP_011513489.1:p.Pro34Thr
NM_001350626.1:c.1444C>A NP_001337555.1:p.Pro482Thr
NM_001350627.1:c.919C>A NP_001337556.1:p.Pro307Thr
NR_146879.1:n.1861C>A
XM_011515177.2:c.1528C>A XP_011513479.1:p.Pro510Thr
XM_011515179.2:c.1525C>A XP_011513481.1:p.Pro509Thr
XM_011515181.2:c.1528C>A XP_011513483.1:p.Pro510Thr
XM_011515182.2:c.1528C>A XP_011513484.1:p.Pro510Thr
XM_011515184.3:c.1003C>A XP_011513486.1:p.Pro335Thr
XM_011515186.2:c.1528C>A XP_011513488.1:p.Pro510Thr
XM_017011833.1:c.1441C>A XP_016867322.1:p.Pro481Thr
XM_017011834.1:c.1441C>A XP_016867323.1:p.Pro481Thr
XM_017011836.2:c.1444C>A XP_016867325.1:p.Pro482Thr
XM_024446682.1:c.100C>A XP_024302450.1:p.Pro34Thr
NM_152743.4:c.1444C>A MANE Select NP_689956.2:p.Pro482Thr
NM_001350626.2:c.1444C>A NP_001337555.1:p.Pro482Thr
NM_001350627.2:c.919C>A NP_001337556.1:p.Pro307Thr
NR_146879.2:n.1627C>A