Canonical Allele Identifier: CA453455065
Gene: BRAT1 HGNC NCBI

Linked Data

dbSNP Id: rs952381868
MyVariant Identifiers: chr7:g.2579484G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2539850G>C , CM000669.2:g.2539850G>C GRCh38
NC_000007.13:g.2579484G>C , CM000669.1:g.2579484G>C GRCh37
NC_000007.12:g.2546010G>C NCBI36
NG_032167.1:g.20909C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340611.9:c.1434C>G MANE Select ENSP00000339637.4:p.Leu478=
ENST00000340611.8:c.1434C>G ENSP00000339637.4:p.Leu478=
ENST00000467558.5:n.2806C>G
ENST00000469750.5:n.4006C>G
ENST00000473879.1:n.150C>G
ENST00000493232.5:n.4170C>G
NM_152743.3:c.1434C>G NP_689956.2:p.Leu478=
XM_005249643.3:c.1434C>G XP_005249700.1:p.Leu478=
XM_011515177.1:c.1518C>G XP_011513479.1:p.Leu506=
XM_011515178.1:c.1518C>G XP_011513480.1:p.Leu506=
XM_011515179.1:c.1515C>G XP_011513481.1:p.Leu505=
XM_011515180.1:c.1488C>G XP_011513482.1:p.Leu496=
XM_011515181.1:c.1518C>G XP_011513483.1:p.Leu506=
XM_011515182.1:c.1518C>G XP_011513484.1:p.Leu506=
XM_011515183.1:c.993C>G XP_011513485.1:p.Leu331=
XM_011515184.1:c.993C>G XP_011513486.1:p.Leu331=
XM_011515185.1:c.1434C>G XP_011513487.1:p.Leu478=
XM_011515186.1:c.1518C>G XP_011513488.1:p.Leu506=
XM_011515187.1:c.90C>G XP_011513489.1:p.Leu30=
NM_001350626.1:c.1434C>G NP_001337555.1:p.Leu478=
NM_001350627.1:c.909C>G NP_001337556.1:p.Leu303=
NR_146879.1:n.1851C>G
XM_011515177.2:c.1518C>G XP_011513479.1:p.Leu506=
XM_011515179.2:c.1515C>G XP_011513481.1:p.Leu505=
XM_011515181.2:c.1518C>G XP_011513483.1:p.Leu506=
XM_011515182.2:c.1518C>G XP_011513484.1:p.Leu506=
XM_011515184.3:c.993C>G XP_011513486.1:p.Leu331=
XM_011515186.2:c.1518C>G XP_011513488.1:p.Leu506=
XM_017011833.1:c.1431C>G XP_016867322.1:p.Leu477=
XM_017011834.1:c.1431C>G XP_016867323.1:p.Leu477=
XM_017011836.2:c.1434C>G XP_016867325.1:p.Leu478=
XM_024446682.1:c.90C>G XP_024302450.1:p.Leu30=
NM_152743.4:c.1434C>G MANE Select NP_689956.2:p.Leu478=
NM_001350626.2:c.1434C>G NP_001337555.1:p.Leu478=
NM_001350627.2:c.909C>G NP_001337556.1:p.Leu303=
NR_146879.2:n.1617C>G