Canonical Allele Identifier: CA453455025

Gene: BRAT1

Linked Data

• ClinVar Variation Id: 2657233
• ClinVar RCV Id: RCV003433721
• dbSNP Id: rs1779005340
• gnomAD v3: 7-2539820-A-C
• gnomAD v4: 7-2539820-A-C
• MyVariant Identifiers: chr7:g.2579454A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539820A>C , CM000669.2:g.2539820A>C	GRCh38
NC_000007.13:g.2579454A>C , CM000669.1:g.2579454A>C	GRCh37
NC_000007.12:g.2545980A>C	NCBI36
NG_032167.1:g.20939T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1464T>G MANE Select	ENSP00000339637.4:p.Ser488=
ENST00000340611.8:c.1464T>G	ENSP00000339637.4:p.Ser488=
ENST00000467558.5:n.2836T>G
ENST00000469750.5:n.4036T>G
ENST00000473879.1:n.180T>G
ENST00000493232.5:n.4200T>G
NM_152743.3:c.1464T>G	NP_689956.2:p.Ser488=
XM_005249643.3:c.1464T>G	XP_005249700.1:p.Ser488=
XM_011515177.1:c.1548T>G	XP_011513479.1:p.Ser516=
XM_011515178.1:c.1548T>G	XP_011513480.1:p.Ser516=
XM_011515179.1:c.1545T>G	XP_011513481.1:p.Ser515=
XM_011515180.1:c.1518T>G	XP_011513482.1:p.Ser506=
XM_011515181.1:c.1548T>G	XP_011513483.1:p.Ser516=
XM_011515182.1:c.1548T>G	XP_011513484.1:p.Ser516=
XM_011515183.1:c.1023T>G	XP_011513485.1:p.Ser341=
XM_011515184.1:c.1023T>G	XP_011513486.1:p.Ser341=
XM_011515185.1:c.1464T>G	XP_011513487.1:p.Ser488=
XM_011515186.1:c.1548T>G	XP_011513488.1:p.Ser516=
XM_011515187.1:c.120T>G	XP_011513489.1:p.Ser40=
NM_001350626.1:c.1464T>G	NP_001337555.1:p.Ser488=
NM_001350627.1:c.939T>G	NP_001337556.1:p.Ser313=
NR_146879.1:n.1881T>G
XM_011515177.2:c.1548T>G	XP_011513479.1:p.Ser516=
XM_011515179.2:c.1545T>G	XP_011513481.1:p.Ser515=
XM_011515181.2:c.1548T>G	XP_011513483.1:p.Ser516=
XM_011515182.2:c.1548T>G	XP_011513484.1:p.Ser516=
XM_011515184.3:c.1023T>G	XP_011513486.1:p.Ser341=
XM_011515186.2:c.1548T>G	XP_011513488.1:p.Ser516=
XM_017011833.1:c.1461T>G	XP_016867322.1:p.Ser487=
XM_017011834.1:c.1461T>G	XP_016867323.1:p.Ser487=
XM_017011836.2:c.1464T>G	XP_016867325.1:p.Ser488=
XM_024446682.1:c.120T>G	XP_024302450.1:p.Ser40=
NM_152743.4:c.1464T>G MANE Select	NP_689956.2:p.Ser488=
NM_001350626.2:c.1464T>G	NP_001337555.1:p.Ser488=
NM_001350627.2:c.939T>G	NP_001337556.1:p.Ser313=
NR_146879.2:n.1647T>G