Canonical Allele Identifier: CA4127746

Gene: BRAT1

Linked Data

• dbSNP Id: rs749881547
• ExAC: 7:2579471 T / C
• gnomAD v2: 7-2579471-T-C
• MyVariant Identifiers: chr7:g.2579471T>C (hg19) ; chr7:g.2539837T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539837T>C , CM000669.2:g.2539837T>C	GRCh38
NC_000007.13:g.2579471T>C , CM000669.1:g.2579471T>C	GRCh37
NC_000007.12:g.2545997T>C	NCBI36
NG_032167.1:g.20922A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1447A>G MANE Select	ENSP00000339637.4:p.Lys483Glu
ENST00000340611.8:c.1447A>G	ENSP00000339637.4:p.Lys483Glu
ENST00000467558.5:n.2819A>G
ENST00000469750.5:n.4019A>G
ENST00000473879.1:n.163A>G
ENST00000493232.5:n.4183A>G
NM_152743.3:c.1447A>G	NP_689956.2:p.Lys483Glu
XM_005249643.3:c.1447A>G	XP_005249700.1:p.Lys483Glu
XM_011515177.1:c.1531A>G	XP_011513479.1:p.Lys511Glu
XM_011515178.1:c.1531A>G	XP_011513480.1:p.Lys511Glu
XM_011515179.1:c.1528A>G	XP_011513481.1:p.Lys510Glu
XM_011515180.1:c.1501A>G	XP_011513482.1:p.Lys501Glu
XM_011515181.1:c.1531A>G	XP_011513483.1:p.Lys511Glu
XM_011515182.1:c.1531A>G	XP_011513484.1:p.Lys511Glu
XM_011515183.1:c.1006A>G	XP_011513485.1:p.Lys336Glu
XM_011515184.1:c.1006A>G	XP_011513486.1:p.Lys336Glu
XM_011515185.1:c.1447A>G	XP_011513487.1:p.Lys483Glu
XM_011515186.1:c.1531A>G	XP_011513488.1:p.Lys511Glu
XM_011515187.1:c.103A>G	XP_011513489.1:p.Lys35Glu
NM_001350626.1:c.1447A>G	NP_001337555.1:p.Lys483Glu
NM_001350627.1:c.922A>G	NP_001337556.1:p.Lys308Glu
NR_146879.1:n.1864A>G
XM_011515177.2:c.1531A>G	XP_011513479.1:p.Lys511Glu
XM_011515179.2:c.1528A>G	XP_011513481.1:p.Lys510Glu
XM_011515181.2:c.1531A>G	XP_011513483.1:p.Lys511Glu
XM_011515182.2:c.1531A>G	XP_011513484.1:p.Lys511Glu
XM_011515184.3:c.1006A>G	XP_011513486.1:p.Lys336Glu
XM_011515186.2:c.1531A>G	XP_011513488.1:p.Lys511Glu
XM_017011833.1:c.1444A>G	XP_016867322.1:p.Lys482Glu
XM_017011834.1:c.1444A>G	XP_016867323.1:p.Lys482Glu
XM_017011836.2:c.1447A>G	XP_016867325.1:p.Lys483Glu
XM_024446682.1:c.103A>G	XP_024302450.1:p.Lys35Glu
NM_152743.4:c.1447A>G MANE Select	NP_689956.2:p.Lys483Glu
NM_001350626.2:c.1447A>G	NP_001337555.1:p.Lys483Glu
NM_001350627.2:c.922A>G	NP_001337556.1:p.Lys308Glu
NR_146879.2:n.1630A>G