Canonical Allele Identifier: CA4127743
Gene: BRAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 472943
ClinVar RCV Id: RCV000541685
dbSNP Id: rs555986902
gnomAD v2: 7-2579463-G-A
gnomAD v3: 7-2539829-G-A
gnomAD v4: 7-2539829-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2539829G>A , CM000669.2:g.2539829G>A GRCh38
NC_000007.13:g.2579463G>A , CM000669.1:g.2579463G>A GRCh37
NC_000007.12:g.2545989G>A NCBI36
NG_032167.1:g.20930C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340611.9:c.1455C>T MANE Select ENSP00000339637.4:p.Pro485=
ENST00000340611.8:c.1455C>T ENSP00000339637.4:p.Pro485=
ENST00000467558.5:n.2827C>T
ENST00000469750.5:n.4027C>T
ENST00000473879.1:n.171C>T
ENST00000493232.5:n.4191C>T
NM_152743.3:c.1455C>T NP_689956.2:p.Pro485=
XM_005249643.3:c.1455C>T XP_005249700.1:p.Pro485=
XM_011515177.1:c.1539C>T XP_011513479.1:p.Pro513=
XM_011515178.1:c.1539C>T XP_011513480.1:p.Pro513=
XM_011515179.1:c.1536C>T XP_011513481.1:p.Pro512=
XM_011515180.1:c.1509C>T XP_011513482.1:p.Pro503=
XM_011515181.1:c.1539C>T XP_011513483.1:p.Pro513=
XM_011515182.1:c.1539C>T XP_011513484.1:p.Pro513=
XM_011515183.1:c.1014C>T XP_011513485.1:p.Pro338=
XM_011515184.1:c.1014C>T XP_011513486.1:p.Pro338=
XM_011515185.1:c.1455C>T XP_011513487.1:p.Pro485=
XM_011515186.1:c.1539C>T XP_011513488.1:p.Pro513=
XM_011515187.1:c.111C>T XP_011513489.1:p.Pro37=
NM_001350626.1:c.1455C>T NP_001337555.1:p.Pro485=
NM_001350627.1:c.930C>T NP_001337556.1:p.Pro310=
NR_146879.1:n.1872C>T
XM_011515177.2:c.1539C>T XP_011513479.1:p.Pro513=
XM_011515179.2:c.1536C>T XP_011513481.1:p.Pro512=
XM_011515181.2:c.1539C>T XP_011513483.1:p.Pro513=
XM_011515182.2:c.1539C>T XP_011513484.1:p.Pro513=
XM_011515184.3:c.1014C>T XP_011513486.1:p.Pro338=
XM_011515186.2:c.1539C>T XP_011513488.1:p.Pro513=
XM_017011833.1:c.1452C>T XP_016867322.1:p.Pro484=
XM_017011834.1:c.1452C>T XP_016867323.1:p.Pro484=
XM_017011836.2:c.1455C>T XP_016867325.1:p.Pro485=
XM_024446682.1:c.111C>T XP_024302450.1:p.Pro37=
NM_152743.4:c.1455C>T MANE Select NP_689956.2:p.Pro485=
NM_001350626.2:c.1455C>T NP_001337555.1:p.Pro485=
NM_001350627.2:c.930C>T NP_001337556.1:p.Pro310=
NR_146879.2:n.1638C>T