Canonical Allele Identifier: CA4127758

Gene: BRAT1

Linked Data

• ClinVar Variation Id: 793815
• ClinVar RCV Id: RCV001441355
• dbSNP Id: rs576174160
• ExAC: 7:2579529 C / T
• gnomAD v2: 7-2579529-C-T
• gnomAD v3: 7-2539895-C-T
• gnomAD v4: 7-2539895-C-T
• COSMIC: COSM5451903
• MyVariant Identifiers: chr7:g.2579529C>T (hg19) ; chr7:g.2539895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539895C>T , CM000669.2:g.2539895C>T	GRCh38
NC_000007.13:g.2579529C>T , CM000669.1:g.2579529C>T	GRCh37
NC_000007.12:g.2546055C>T	NCBI36
NG_032167.1:g.20864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1396-7G>A MANE Select	ENSP00000339637.4:n.1396-7G>A
ENST00000340611.8:c.1396-7G>A	ENSP00000339637.4:n.1396-7G>A
ENST00000467558.5:n.2761G>A
ENST00000469750.5:n.3961G>A
ENST00000473879.1:n.112-7G>A
ENST00000493232.5:n.4125G>A
NM_152743.3:c.1396-7G>A	NP_689956.2:n.1396-7G>A
XM_005249643.3:c.1396-7G>A	XP_005249700.1:n.1396-7G>A
XM_011515177.1:c.1473G>A	XP_011513479.1:p.Leu491=
XM_011515178.1:c.1473G>A	XP_011513480.1:p.Leu491=
XM_011515179.1:c.1470G>A	XP_011513481.1:p.Leu490=
XM_011515180.1:c.1443G>A	XP_011513482.1:p.Leu481=
XM_011515181.1:c.1473G>A	XP_011513483.1:p.Leu491=
XM_011515182.1:c.1473G>A	XP_011513484.1:p.Leu491=
XM_011515183.1:c.948G>A	XP_011513485.1:p.Leu316=
XM_011515184.1:c.948G>A	XP_011513486.1:p.Leu316=
XM_011515185.1:c.1396-7G>A	XP_011513487.1:n.1396-7G>A
XM_011515186.1:c.1473G>A	XP_011513488.1:p.Leu491=
XM_011515187.1:c.52-7G>A	XP_011513489.1:n.52-7G>A
NM_001350626.1:c.1396-7G>A	NP_001337555.1:n.1396-7G>A
NM_001350627.1:c.871-7G>A	NP_001337556.1:n.871-7G>A
NR_146879.1:n.1813-7G>A
XM_011515177.2:c.1473G>A	XP_011513479.1:p.Leu491=
XM_011515179.2:c.1470G>A	XP_011513481.1:p.Leu490=
XM_011515181.2:c.1473G>A	XP_011513483.1:p.Leu491=
XM_011515182.2:c.1473G>A	XP_011513484.1:p.Leu491=
XM_011515184.3:c.948G>A	XP_011513486.1:p.Leu316=
XM_011515186.2:c.1473G>A	XP_011513488.1:p.Leu491=
XM_017011833.1:c.1393-7G>A	XP_016867322.1:n.1393-7G>A
XM_017011834.1:c.1393-7G>A	XP_016867323.1:n.1393-7G>A
XM_017011836.2:c.1396-7G>A	XP_016867325.1:n.1396-7G>A
XM_024446682.1:c.52-7G>A	XP_024302450.1:n.52-7G>A
NM_152743.4:c.1396-7G>A MANE Select	NP_689956.2:n.1396-7G>A
NM_001350626.2:c.1396-7G>A	NP_001337555.1:n.1396-7G>A
NM_001350627.2:c.871-7G>A	NP_001337556.1:n.871-7G>A
NR_146879.2:n.1579-7G>A