Canonical Allele Identifier: CA366628289

Gene: BRAT1

Linked Data

• gnomAD v4: 7-2539845-C-G
• MyVariant Identifiers: chr7:g.2579479C>G (hg19) ; chr7:g.2539845C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539845C>G , CM000669.2:g.2539845C>G	GRCh38
NC_000007.13:g.2579479C>G , CM000669.1:g.2579479C>G	GRCh37
NC_000007.12:g.2546005C>G	NCBI36
NG_032167.1:g.20914G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1439G>C MANE Select	ENSP00000339637.4:p.Ser480Thr
ENST00000340611.8:c.1439G>C	ENSP00000339637.4:p.Ser480Thr
ENST00000467558.5:n.2811G>C
ENST00000469750.5:n.4011G>C
ENST00000473879.1:n.155G>C
ENST00000493232.5:n.4175G>C
NM_152743.3:c.1439G>C	NP_689956.2:p.Ser480Thr
XM_005249643.3:c.1439G>C	XP_005249700.1:p.Ser480Thr
XM_011515177.1:c.1523G>C	XP_011513479.1:p.Ser508Thr
XM_011515178.1:c.1523G>C	XP_011513480.1:p.Ser508Thr
XM_011515179.1:c.1520G>C	XP_011513481.1:p.Ser507Thr
XM_011515180.1:c.1493G>C	XP_011513482.1:p.Ser498Thr
XM_011515181.1:c.1523G>C	XP_011513483.1:p.Ser508Thr
XM_011515182.1:c.1523G>C	XP_011513484.1:p.Ser508Thr
XM_011515183.1:c.998G>C	XP_011513485.1:p.Ser333Thr
XM_011515184.1:c.998G>C	XP_011513486.1:p.Ser333Thr
XM_011515185.1:c.1439G>C	XP_011513487.1:p.Ser480Thr
XM_011515186.1:c.1523G>C	XP_011513488.1:p.Ser508Thr
XM_011515187.1:c.95G>C	XP_011513489.1:p.Ser32Thr
NM_001350626.1:c.1439G>C	NP_001337555.1:p.Ser480Thr
NM_001350627.1:c.914G>C	NP_001337556.1:p.Ser305Thr
NR_146879.1:n.1856G>C
XM_011515177.2:c.1523G>C	XP_011513479.1:p.Ser508Thr
XM_011515179.2:c.1520G>C	XP_011513481.1:p.Ser507Thr
XM_011515181.2:c.1523G>C	XP_011513483.1:p.Ser508Thr
XM_011515182.2:c.1523G>C	XP_011513484.1:p.Ser508Thr
XM_011515184.3:c.998G>C	XP_011513486.1:p.Ser333Thr
XM_011515186.2:c.1523G>C	XP_011513488.1:p.Ser508Thr
XM_017011833.1:c.1436G>C	XP_016867322.1:p.Ser479Thr
XM_017011834.1:c.1436G>C	XP_016867323.1:p.Ser479Thr
XM_017011836.2:c.1439G>C	XP_016867325.1:p.Ser480Thr
XM_024446682.1:c.95G>C	XP_024302450.1:p.Ser32Thr
NM_152743.4:c.1439G>C MANE Select	NP_689956.2:p.Ser480Thr
NM_001350626.2:c.1439G>C	NP_001337555.1:p.Ser480Thr
NM_001350627.2:c.914G>C	NP_001337556.1:p.Ser305Thr
NR_146879.2:n.1622G>C