Canonical Allele Identifier: CA366628233

Gene: BRAT1

Linked Data

• gnomAD v4: 7-2539831-G-C
• MyVariant Identifiers: chr7:g.2579465G>C (hg19) ; chr7:g.2539831G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2539831G>C , CM000669.2:g.2539831G>C	GRCh38
NC_000007.13:g.2579465G>C , CM000669.1:g.2579465G>C	GRCh37
NC_000007.12:g.2545991G>C	NCBI36
NG_032167.1:g.20928C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1453C>G MANE Select	ENSP00000339637.4:p.Pro485Ala
ENST00000340611.8:c.1453C>G	ENSP00000339637.4:p.Pro485Ala
ENST00000467558.5:n.2825C>G
ENST00000469750.5:n.4025C>G
ENST00000473879.1:n.169C>G
ENST00000493232.5:n.4189C>G
NM_152743.3:c.1453C>G	NP_689956.2:p.Pro485Ala
XM_005249643.3:c.1453C>G	XP_005249700.1:p.Pro485Ala
XM_011515177.1:c.1537C>G	XP_011513479.1:p.Pro513Ala
XM_011515178.1:c.1537C>G	XP_011513480.1:p.Pro513Ala
XM_011515179.1:c.1534C>G	XP_011513481.1:p.Pro512Ala
XM_011515180.1:c.1507C>G	XP_011513482.1:p.Pro503Ala
XM_011515181.1:c.1537C>G	XP_011513483.1:p.Pro513Ala
XM_011515182.1:c.1537C>G	XP_011513484.1:p.Pro513Ala
XM_011515183.1:c.1012C>G	XP_011513485.1:p.Pro338Ala
XM_011515184.1:c.1012C>G	XP_011513486.1:p.Pro338Ala
XM_011515185.1:c.1453C>G	XP_011513487.1:p.Pro485Ala
XM_011515186.1:c.1537C>G	XP_011513488.1:p.Pro513Ala
XM_011515187.1:c.109C>G	XP_011513489.1:p.Pro37Ala
NM_001350626.1:c.1453C>G	NP_001337555.1:p.Pro485Ala
NM_001350627.1:c.928C>G	NP_001337556.1:p.Pro310Ala
NR_146879.1:n.1870C>G
XM_011515177.2:c.1537C>G	XP_011513479.1:p.Pro513Ala
XM_011515179.2:c.1534C>G	XP_011513481.1:p.Pro512Ala
XM_011515181.2:c.1537C>G	XP_011513483.1:p.Pro513Ala
XM_011515182.2:c.1537C>G	XP_011513484.1:p.Pro513Ala
XM_011515184.3:c.1012C>G	XP_011513486.1:p.Pro338Ala
XM_011515186.2:c.1537C>G	XP_011513488.1:p.Pro513Ala
XM_017011833.1:c.1450C>G	XP_016867322.1:p.Pro484Ala
XM_017011834.1:c.1450C>G	XP_016867323.1:p.Pro484Ala
XM_017011836.2:c.1453C>G	XP_016867325.1:p.Pro485Ala
XM_024446682.1:c.109C>G	XP_024302450.1:p.Pro37Ala
NM_152743.4:c.1453C>G MANE Select	NP_689956.2:p.Pro485Ala
NM_001350626.2:c.1453C>G	NP_001337555.1:p.Pro485Ala
NM_001350627.2:c.928C>G	NP_001337556.1:p.Pro310Ala
NR_146879.2:n.1636C>G