Canonical Allele Identifier: CA686751570
Gene: BCAT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.24828657A>G , CM000674.2:g.24828657A>G GRCh38
NC_000012.11:g.24981591A>G , CM000674.1:g.24981591A>G GRCh37
NC_000012.10:g.24872858A>G NCBI36
NG_008170.1:g.125718T>C
NG_008170.2:g.125718T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261192.12:c.1119+1166T>C MANE Select ENSP00000261192.7:n.1119+1166T>C
ENST00000261192.11:c.1119+1166T>C ENSP00000261192.7:n.1119+1166T>C
ENST00000342945.9:c.936+1166T>C ENSP00000339805.5:n.936+1166T>C
ENST00000538118.5:c.1116+1166T>C ENSP00000440817.1:n.1116+1166T>C
ENST00000539282.5:c.1155+1166T>C ENSP00000443459.1:n.1155+1166T>C
ENST00000539780.5:c.1008+1166T>C ENSP00000440827.1:n.1008+1166T>C
ENST00000543099.1:n.174+1166T>C
NM_001178091.1:c.1008+1166T>C NP_001171562.1:n.1008+1166T>C
NM_001178092.1:c.936+1166T>C NP_001171563.1:n.936+1166T>C
NM_001178093.1:c.1155+1166T>C NP_001171564.1:n.1155+1166T>C
NM_001178094.1:c.1116+1166T>C NP_001171565.1:n.1116+1166T>C
NM_005504.6:c.1119+1166T>C NP_005495.2:n.1119+1166T>C
XM_011520810.1:c.1155+1166T>C XP_011519112.1:n.1155+1166T>C
XR_931441.1:n.1532-2044A>G
XR_931442.1:n.1532-2044A>G
XR_931443.1:n.1439-2044A>G
XM_017019768.2:c.1221+1166T>C XP_016875257.1:n.1221+1166T>C
XR_001748835.2:n.4171+1166T>C
XR_001749047.1:n.3978-2044A>G
XR_001749048.2:n.3978-2044A>G
XR_001749049.1:n.3885-2044A>G
NM_005504.7:c.1119+1166T>C MANE Select NP_005495.2:n.1119+1166T>C
NM_001178091.2:c.1008+1166T>C NP_001171562.1:n.1008+1166T>C
NM_001178092.2:c.936+1166T>C NP_001171563.1:n.936+1166T>C
NM_001178093.2:c.1155+1166T>C NP_001171564.1:n.1155+1166T>C
NM_001178094.2:c.1116+1166T>C NP_001171565.1:n.1116+1166T>C