Canonical Allele Identifier: CA453455058

Gene: BRAT1

Linked Data

• ClinVar Variation Id: 770733
• ClinVar RCV Id: RCV001469253
• dbSNP Id: rs1583296135
• gnomAD v4: 7-2539844-G-A
• MyVariant Identifiers: chr7:g.2579478G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539844G>A , CM000669.2:g.2539844G>A	GRCh38
NC_000007.13:g.2579478G>A , CM000669.1:g.2579478G>A	GRCh37
NC_000007.12:g.2546004G>A	NCBI36
NG_032167.1:g.20915C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1440C>T MANE Select	ENSP00000339637.4:p.Ser480=
ENST00000340611.8:c.1440C>T	ENSP00000339637.4:p.Ser480=
ENST00000467558.5:n.2812C>T
ENST00000469750.5:n.4012C>T
ENST00000473879.1:n.156C>T
ENST00000493232.5:n.4176C>T
NM_152743.3:c.1440C>T	NP_689956.2:p.Ser480=
XM_005249643.3:c.1440C>T	XP_005249700.1:p.Ser480=
XM_011515177.1:c.1524C>T	XP_011513479.1:p.Ser508=
XM_011515178.1:c.1524C>T	XP_011513480.1:p.Ser508=
XM_011515179.1:c.1521C>T	XP_011513481.1:p.Ser507=
XM_011515180.1:c.1494C>T	XP_011513482.1:p.Ser498=
XM_011515181.1:c.1524C>T	XP_011513483.1:p.Ser508=
XM_011515182.1:c.1524C>T	XP_011513484.1:p.Ser508=
XM_011515183.1:c.999C>T	XP_011513485.1:p.Ser333=
XM_011515184.1:c.999C>T	XP_011513486.1:p.Ser333=
XM_011515185.1:c.1440C>T	XP_011513487.1:p.Ser480=
XM_011515186.1:c.1524C>T	XP_011513488.1:p.Ser508=
XM_011515187.1:c.96C>T	XP_011513489.1:p.Ser32=
NM_001350626.1:c.1440C>T	NP_001337555.1:p.Ser480=
NM_001350627.1:c.915C>T	NP_001337556.1:p.Ser305=
NR_146879.1:n.1857C>T
XM_011515177.2:c.1524C>T	XP_011513479.1:p.Ser508=
XM_011515179.2:c.1521C>T	XP_011513481.1:p.Ser507=
XM_011515181.2:c.1524C>T	XP_011513483.1:p.Ser508=
XM_011515182.2:c.1524C>T	XP_011513484.1:p.Ser508=
XM_011515184.3:c.999C>T	XP_011513486.1:p.Ser333=
XM_011515186.2:c.1524C>T	XP_011513488.1:p.Ser508=
XM_017011833.1:c.1437C>T	XP_016867322.1:p.Ser479=
XM_017011834.1:c.1437C>T	XP_016867323.1:p.Ser479=
XM_017011836.2:c.1440C>T	XP_016867325.1:p.Ser480=
XM_024446682.1:c.96C>T	XP_024302450.1:p.Ser32=
NM_152743.4:c.1440C>T MANE Select	NP_689956.2:p.Ser480=
NM_001350626.2:c.1440C>T	NP_001337555.1:p.Ser480=
NM_001350627.2:c.915C>T	NP_001337556.1:p.Ser305=
NR_146879.2:n.1623C>T