Canonical Allele Identifier: CA366625161

Gene: BRAT1

Linked Data

• gnomAD v4: 7-2538589-T-C
• MyVariant Identifiers: chr7:g.2578223T>C (hg19) ; chr7:g.2538589T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2538589T>C , CM000669.2:g.2538589T>C	GRCh38
NC_000007.13:g.2578223T>C , CM000669.1:g.2578223T>C	GRCh37
NC_000007.12:g.2544749T>C	NCBI36
NG_032167.1:g.22170A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1946A>G MANE Select	ENSP00000339637.4:p.Glu649Gly
ENST00000340611.8:c.1946A>G	ENSP00000339637.4:p.Glu649Gly
ENST00000467558.5:n.3732A>G
ENST00000469750.5:n.4518A>G
ENST00000473879.1:n.489A>G
ENST00000493232.5:n.4652A>G
NM_152743.3:c.1946A>G	NP_689956.2:p.Glu649Gly
XM_005249643.3:c.2126A>G	XP_005249700.1:p.Glu709Gly
XM_011515177.1:c.2210A>G	XP_011513479.1:p.Glu737Gly
XM_011515178.1:c.2210A>G	XP_011513480.1:p.Glu737Gly
XM_011515179.1:c.2207A>G	XP_011513481.1:p.Glu736Gly
XM_011515180.1:c.2180A>G	XP_011513482.1:p.Glu727Gly
XM_011515181.1:c.2030A>G	XP_011513483.1:p.Glu677Gly
XM_011515182.1:c.2210A>G	XP_011513484.1:p.Glu737Gly
XM_011515183.1:c.1685A>G	XP_011513485.1:p.Glu562Gly
XM_011515184.1:c.1685A>G	XP_011513486.1:p.Glu562Gly
XM_011515185.1:c.1946A>G	XP_011513487.1:p.Glu649Gly
XM_011515187.1:c.782A>G	XP_011513489.1:p.Glu261Gly
NM_001350626.1:c.2126A>G	NP_001337555.1:p.Glu709Gly
NM_001350627.1:c.1421A>G	NP_001337556.1:p.Glu474Gly
NR_146879.1:n.2363A>G
XM_011515177.2:c.2210A>G	XP_011513479.1:p.Glu737Gly
XM_011515179.2:c.2207A>G	XP_011513481.1:p.Glu736Gly
XM_011515181.2:c.2030A>G	XP_011513483.1:p.Glu677Gly
XM_011515182.2:c.2210A>G	XP_011513484.1:p.Glu737Gly
XM_011515184.3:c.1685A>G	XP_011513486.1:p.Glu562Gly
XM_011515186.2:c.*93A>G	XP_011513488.1:n.*93A>G
XM_017011833.1:c.2123A>G	XP_016867322.1:p.Glu708Gly
XM_017011834.1:c.1943A>G	XP_016867323.1:p.Glu648Gly
XM_017011836.2:c.*93A>G	XP_016867325.1:n.*93A>G
XM_024446682.1:c.782A>G	XP_024302450.1:p.Glu261Gly
NM_152743.4:c.1946A>G MANE Select	NP_689956.2:p.Glu649Gly
NM_001350626.2:c.2126A>G	NP_001337555.1:p.Glu709Gly
NM_001350627.2:c.1421A>G	NP_001337556.1:p.Glu474Gly
NR_146879.2:n.2129A>G