Canonical Allele Identifier: CA366626322

Gene: BRAT1

Linked Data

• gnomAD v4: 7-2539205-T-G
• MyVariant Identifiers: chr7:g.2578839T>G (hg19) ; chr7:g.2539205T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539205T>G , CM000669.2:g.2539205T>G	GRCh38
NC_000007.13:g.2578839T>G , CM000669.1:g.2578839T>G	GRCh37
NC_000007.12:g.2545365T>G	NCBI36
NG_032167.1:g.21554A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1744A>C MANE Select	ENSP00000339637.4:p.Ser582Arg
ENST00000340611.8:c.1744A>C	ENSP00000339637.4:p.Ser582Arg
ENST00000467558.5:n.3116A>C
ENST00000469750.5:n.4316A>C
ENST00000473879.1:n.313+339A>C
ENST00000493232.5:n.4476+339A>C
NM_152743.3:c.1744A>C	NP_689956.2:p.Ser582Arg
XM_005249643.3:c.1744A>C	XP_005249700.1:p.Ser582Arg
XM_011515177.1:c.1828A>C	XP_011513479.1:p.Ser610Arg
XM_011515178.1:c.1828A>C	XP_011513480.1:p.Ser610Arg
XM_011515179.1:c.1825A>C	XP_011513481.1:p.Ser609Arg
XM_011515180.1:c.1798A>C	XP_011513482.1:p.Ser600Arg
XM_011515181.1:c.1828A>C	XP_011513483.1:p.Ser610Arg
XM_011515182.1:c.1828A>C	XP_011513484.1:p.Ser610Arg
XM_011515183.1:c.1303A>C	XP_011513485.1:p.Ser435Arg
XM_011515184.1:c.1303A>C	XP_011513486.1:p.Ser435Arg
XM_011515185.1:c.1744A>C	XP_011513487.1:p.Ser582Arg
XM_011515186.1:c.1681+339A>C	XP_011513488.1:n.1681+339A>C
XM_011515187.1:c.400A>C	XP_011513489.1:p.Ser134Arg
NM_001350626.1:c.1744A>C	NP_001337555.1:p.Ser582Arg
NM_001350627.1:c.1219A>C	NP_001337556.1:p.Ser407Arg
NR_146879.1:n.2161A>C
XM_011515177.2:c.1828A>C	XP_011513479.1:p.Ser610Arg
XM_011515179.2:c.1825A>C	XP_011513481.1:p.Ser609Arg
XM_011515181.2:c.1828A>C	XP_011513483.1:p.Ser610Arg
XM_011515182.2:c.1828A>C	XP_011513484.1:p.Ser610Arg
XM_011515184.3:c.1303A>C	XP_011513486.1:p.Ser435Arg
XM_011515186.2:c.1681+339A>C	XP_011513488.1:n.1681+339A>C
XM_017011833.1:c.1741A>C	XP_016867322.1:p.Ser581Arg
XM_017011834.1:c.1741A>C	XP_016867323.1:p.Ser581Arg
XM_017011836.2:c.1597+339A>C	XP_016867325.1:n.1597+339A>C
XM_024446682.1:c.400A>C	XP_024302450.1:p.Ser134Arg
NM_152743.4:c.1744A>C MANE Select	NP_689956.2:p.Ser582Arg
NM_001350626.2:c.1744A>C	NP_001337555.1:p.Ser582Arg
NM_001350627.2:c.1219A>C	NP_001337556.1:p.Ser407Arg
NR_146879.2:n.1927A>C