Canonical Allele Identifier: CA366626376

Gene: BRAT1

Linked Data

• gnomAD v4: 7-2539214-C-G
• MyVariant Identifiers: chr7:g.2578848C>G (hg19) ; chr7:g.2539214C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539214C>G , CM000669.2:g.2539214C>G	GRCh38
NC_000007.13:g.2578848C>G , CM000669.1:g.2578848C>G	GRCh37
NC_000007.12:g.2545374C>G	NCBI36
NG_032167.1:g.21545G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1735G>C MANE Select	ENSP00000339637.4:p.Ala579Pro
ENST00000340611.8:c.1735G>C	ENSP00000339637.4:p.Ala579Pro
ENST00000467558.5:n.3107G>C
ENST00000469750.5:n.4307G>C
ENST00000473879.1:n.313+330G>C
ENST00000493232.5:n.4476+330G>C
NM_152743.3:c.1735G>C	NP_689956.2:p.Ala579Pro
XM_005249643.3:c.1735G>C	XP_005249700.1:p.Ala579Pro
XM_011515177.1:c.1819G>C	XP_011513479.1:p.Ala607Pro
XM_011515178.1:c.1819G>C	XP_011513480.1:p.Ala607Pro
XM_011515179.1:c.1816G>C	XP_011513481.1:p.Ala606Pro
XM_011515180.1:c.1789G>C	XP_011513482.1:p.Ala597Pro
XM_011515181.1:c.1819G>C	XP_011513483.1:p.Ala607Pro
XM_011515182.1:c.1819G>C	XP_011513484.1:p.Ala607Pro
XM_011515183.1:c.1294G>C	XP_011513485.1:p.Ala432Pro
XM_011515184.1:c.1294G>C	XP_011513486.1:p.Ala432Pro
XM_011515185.1:c.1735G>C	XP_011513487.1:p.Ala579Pro
XM_011515186.1:c.1681+330G>C	XP_011513488.1:n.1681+330G>C
XM_011515187.1:c.391G>C	XP_011513489.1:p.Ala131Pro
NM_001350626.1:c.1735G>C	NP_001337555.1:p.Ala579Pro
NM_001350627.1:c.1210G>C	NP_001337556.1:p.Ala404Pro
NR_146879.1:n.2152G>C
XM_011515177.2:c.1819G>C	XP_011513479.1:p.Ala607Pro
XM_011515179.2:c.1816G>C	XP_011513481.1:p.Ala606Pro
XM_011515181.2:c.1819G>C	XP_011513483.1:p.Ala607Pro
XM_011515182.2:c.1819G>C	XP_011513484.1:p.Ala607Pro
XM_011515184.3:c.1294G>C	XP_011513486.1:p.Ala432Pro
XM_011515186.2:c.1681+330G>C	XP_011513488.1:n.1681+330G>C
XM_017011833.1:c.1732G>C	XP_016867322.1:p.Ala578Pro
XM_017011834.1:c.1732G>C	XP_016867323.1:p.Ala578Pro
XM_017011836.2:c.1597+330G>C	XP_016867325.1:n.1597+330G>C
XM_024446682.1:c.391G>C	XP_024302450.1:p.Ala131Pro
NM_152743.4:c.1735G>C MANE Select	NP_689956.2:p.Ala579Pro
NM_001350626.2:c.1735G>C	NP_001337555.1:p.Ala579Pro
NM_001350627.2:c.1210G>C	NP_001337556.1:p.Ala404Pro
NR_146879.2:n.1918G>C