Canonical Allele Identifier: CA366623046

Gene: BRAT1

Linked Data

• ClinVar Variation Id: 1472491
• ClinVar RCV Id: RCV001976038
• dbSNP Id: rs1583287927
• MyVariant Identifiers: chr7:g.2577822C>T (hg19) ; chr7:g.2538188C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2538188C>T , CM000669.2:g.2538188C>T	GRCh38
NC_000007.13:g.2577822C>T , CM000669.1:g.2577822C>T	GRCh37
NC_000007.12:g.2544348C>T	NCBI36
NG_032167.1:g.22571G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.2347G>A MANE Select	ENSP00000339637.4:p.Gly783Ser
ENST00000340611.8:c.2347G>A	ENSP00000339637.4:p.Gly783Ser
ENST00000467558.5:n.4133G>A
ENST00000469750.5:n.4919G>A
ENST00000493232.5:n.5053G>A
NM_152743.3:c.2347G>A	NP_689956.2:p.Gly783Ser
XM_005249643.3:c.2527G>A	XP_005249700.1:p.Gly843Ser
XM_011515177.1:c.2611G>A	XP_011513479.1:p.Gly871Ser
XM_011515178.1:c.2611G>A	XP_011513480.1:p.Gly871Ser
XM_011515179.1:c.2608G>A	XP_011513481.1:p.Gly870Ser
XM_011515180.1:c.2581G>A	XP_011513482.1:p.Gly861Ser
XM_011515181.1:c.2431G>A	XP_011513483.1:p.Gly811Ser
XM_011515182.1:c.2611G>A	XP_011513484.1:p.Gly871Ser
XM_011515183.1:c.2086G>A	XP_011513485.1:p.Gly696Ser
XM_011515184.1:c.2086G>A	XP_011513486.1:p.Gly696Ser
XM_011515185.1:c.2347G>A	XP_011513487.1:p.Gly783Ser
XM_011515187.1:c.1183G>A	XP_011513489.1:p.Gly395Ser
NM_001350626.1:c.2527G>A	NP_001337555.1:p.Gly843Ser
NM_001350627.1:c.1822G>A	NP_001337556.1:p.Gly608Ser
NR_146879.1:n.2764G>A
XM_011515177.2:c.2611G>A	XP_011513479.1:p.Gly871Ser
XM_011515179.2:c.2608G>A	XP_011513481.1:p.Gly870Ser
XM_011515181.2:c.2431G>A	XP_011513483.1:p.Gly811Ser
XM_011515182.2:c.2611G>A	XP_011513484.1:p.Gly871Ser
XM_011515184.3:c.2086G>A	XP_011513486.1:p.Gly696Ser
XM_011515186.2:c.*494G>A	XP_011513488.1:n.*494G>A
XM_017011833.1:c.2524G>A	XP_016867322.1:p.Gly842Ser
XM_017011834.1:c.2344G>A	XP_016867323.1:p.Gly782Ser
XM_017011836.2:c.*494G>A	XP_016867325.1:n.*494G>A
XM_024446682.1:c.1183G>A	XP_024302450.1:p.Gly395Ser
NM_152743.4:c.2347G>A MANE Select	NP_689956.2:p.Gly783Ser
NM_001350626.2:c.2527G>A	NP_001337555.1:p.Gly843Ser
NM_001350627.2:c.1822G>A	NP_001337556.1:p.Gly608Ser
NR_146879.2:n.2530G>A