Canonical Allele Identifier: CA366632769
Gene: BRAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427101
dbSNP Id: rs1085307958

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2544920A>G , CM000669.2:g.2544920A>G GRCh38
NC_000007.13:g.2584554A>G , CM000669.1:g.2584554A>G GRCh37
NC_000007.12:g.2551080A>G NCBI36
NG_032167.1:g.15839T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340611.9:c.419T>C MANE Select ENSP00000339637.4:p.Leu140Pro
ENST00000340611.8:c.419T>C ENSP00000339637.4:p.Leu140Pro
ENST00000421712.1:c.283-958T>C ENSP00000409209.2:n.283-958T>C
ENST00000467558.5:n.435T>C
ENST00000469750.5:n.643T>C
NM_152743.3:c.419T>C NP_689956.2:p.Leu140Pro
XM_005249643.3:c.419T>C XP_005249700.1:p.Leu140Pro
XM_011515177.1:c.419T>C XP_011513479.1:p.Leu140Pro
XM_011515178.1:c.419T>C XP_011513480.1:p.Leu140Pro
XM_011515179.1:c.416T>C XP_011513481.1:p.Leu139Pro
XM_011515180.1:c.401-958T>C XP_011513482.1:n.401-958T>C
XM_011515181.1:c.419T>C XP_011513483.1:p.Leu140Pro
XM_011515182.1:c.419T>C XP_011513484.1:p.Leu140Pro
XM_011515183.1:c.-95-958T>C XP_011513485.1:n.-95-958T>C
XM_011515184.1:c.-107T>C XP_011513486.1:n.-107T>C
XM_011515185.1:c.419T>C XP_011513487.1:p.Leu140Pro
XM_011515186.1:c.419T>C XP_011513488.1:p.Leu140Pro
NM_001350626.1:c.419T>C NP_001337555.1:p.Leu140Pro
NM_001350627.1:c.-95-958T>C NP_001337556.1:n.-95-958T>C
NR_146879.1:n.712T>C
XM_011515177.2:c.419T>C XP_011513479.1:p.Leu140Pro
XM_011515179.2:c.416T>C XP_011513481.1:p.Leu139Pro
XM_011515181.2:c.419T>C XP_011513483.1:p.Leu140Pro
XM_011515182.2:c.419T>C XP_011513484.1:p.Leu140Pro
XM_011515184.3:c.-107T>C XP_011513486.1:n.-107T>C
XM_011515186.2:c.419T>C XP_011513488.1:p.Leu140Pro
XM_017011833.1:c.416T>C XP_016867322.1:p.Leu139Pro
XM_017011834.1:c.416T>C XP_016867323.1:p.Leu139Pro
XM_017011836.2:c.419T>C XP_016867325.1:p.Leu140Pro
NM_152743.4:c.419T>C MANE Select NP_689956.2:p.Leu140Pro
NM_001350626.2:c.419T>C NP_001337555.1:p.Leu140Pro
NM_001350627.2:c.-95-958T>C NP_001337556.1:n.-95-958T>C
NR_146879.2:n.478T>C