Canonical Allele Identifier: CA4127747
Gene: BRAT1 HGNC NCBI

Linked Data

dbSNP Id: rs374233073
gnomAD v2: 7-2579472-G-A
gnomAD v3: 7-2539838-G-A
gnomAD v4: 7-2539838-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2539838G>A , CM000669.2:g.2539838G>A GRCh38
NC_000007.13:g.2579472G>A , CM000669.1:g.2579472G>A GRCh37
NC_000007.12:g.2545998G>A NCBI36
NG_032167.1:g.20921C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340611.9:c.1446C>T MANE Select ENSP00000339637.4:p.Pro482=
ENST00000340611.8:c.1446C>T ENSP00000339637.4:p.Pro482=
ENST00000467558.5:n.2818C>T
ENST00000469750.5:n.4018C>T
ENST00000473879.1:n.162C>T
ENST00000493232.5:n.4182C>T
NM_152743.3:c.1446C>T NP_689956.2:p.Pro482=
XM_005249643.3:c.1446C>T XP_005249700.1:p.Pro482=
XM_011515177.1:c.1530C>T XP_011513479.1:p.Pro510=
XM_011515178.1:c.1530C>T XP_011513480.1:p.Pro510=
XM_011515179.1:c.1527C>T XP_011513481.1:p.Pro509=
XM_011515180.1:c.1500C>T XP_011513482.1:p.Pro500=
XM_011515181.1:c.1530C>T XP_011513483.1:p.Pro510=
XM_011515182.1:c.1530C>T XP_011513484.1:p.Pro510=
XM_011515183.1:c.1005C>T XP_011513485.1:p.Pro335=
XM_011515184.1:c.1005C>T XP_011513486.1:p.Pro335=
XM_011515185.1:c.1446C>T XP_011513487.1:p.Pro482=
XM_011515186.1:c.1530C>T XP_011513488.1:p.Pro510=
XM_011515187.1:c.102C>T XP_011513489.1:p.Pro34=
NM_001350626.1:c.1446C>T NP_001337555.1:p.Pro482=
NM_001350627.1:c.921C>T NP_001337556.1:p.Pro307=
NR_146879.1:n.1863C>T
XM_011515177.2:c.1530C>T XP_011513479.1:p.Pro510=
XM_011515179.2:c.1527C>T XP_011513481.1:p.Pro509=
XM_011515181.2:c.1530C>T XP_011513483.1:p.Pro510=
XM_011515182.2:c.1530C>T XP_011513484.1:p.Pro510=
XM_011515184.3:c.1005C>T XP_011513486.1:p.Pro335=
XM_011515186.2:c.1530C>T XP_011513488.1:p.Pro510=
XM_017011833.1:c.1443C>T XP_016867322.1:p.Pro481=
XM_017011834.1:c.1443C>T XP_016867323.1:p.Pro481=
XM_017011836.2:c.1446C>T XP_016867325.1:p.Pro482=
XM_024446682.1:c.102C>T XP_024302450.1:p.Pro34=
NM_152743.4:c.1446C>T MANE Select NP_689956.2:p.Pro482=
NM_001350626.2:c.1446C>T NP_001337555.1:p.Pro482=
NM_001350627.2:c.921C>T NP_001337556.1:p.Pro307=
NR_146879.2:n.1629C>T