Canonical Allele Identifier: CA686712456
Gene: BCAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1326666665

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.24828734G>A , CM000674.2:g.24828734G>A GRCh38
NC_000012.11:g.24981668G>A , CM000674.1:g.24981668G>A GRCh37
NC_000012.10:g.24872935G>A NCBI36
NG_008170.1:g.125641C>T
NG_008170.2:g.125641C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261192.12:c.1119+1089C>T MANE Select ENSP00000261192.7:n.1119+1089C>T
ENST00000261192.11:c.1119+1089C>T ENSP00000261192.7:n.1119+1089C>T
ENST00000342945.9:c.936+1089C>T ENSP00000339805.5:n.936+1089C>T
ENST00000538118.5:c.1116+1089C>T ENSP00000440817.1:n.1116+1089C>T
ENST00000539282.5:c.1155+1089C>T ENSP00000443459.1:n.1155+1089C>T
ENST00000539780.5:c.1008+1089C>T ENSP00000440827.1:n.1008+1089C>T
ENST00000543099.1:n.174+1089C>T
NM_001178091.1:c.1008+1089C>T NP_001171562.1:n.1008+1089C>T
NM_001178092.1:c.936+1089C>T NP_001171563.1:n.936+1089C>T
NM_001178093.1:c.1155+1089C>T NP_001171564.1:n.1155+1089C>T
NM_001178094.1:c.1116+1089C>T NP_001171565.1:n.1116+1089C>T
NM_005504.6:c.1119+1089C>T NP_005495.2:n.1119+1089C>T
XM_011520810.1:c.1155+1089C>T XP_011519112.1:n.1155+1089C>T
XR_931441.1:n.1532-1967G>A
XR_931442.1:n.1532-1967G>A
XR_931443.1:n.1439-1967G>A
XM_017019768.2:c.1221+1089C>T XP_016875257.1:n.1221+1089C>T
XR_001748835.2:n.4171+1089C>T
XR_001749047.1:n.3978-1967G>A
XR_001749048.2:n.3978-1967G>A
XR_001749049.1:n.3885-1967G>A
NM_005504.7:c.1119+1089C>T MANE Select NP_005495.2:n.1119+1089C>T
NM_001178091.2:c.1008+1089C>T NP_001171562.1:n.1008+1089C>T
NM_001178092.2:c.936+1089C>T NP_001171563.1:n.936+1089C>T
NM_001178093.2:c.1155+1089C>T NP_001171564.1:n.1155+1089C>T
NM_001178094.2:c.1116+1089C>T NP_001171565.1:n.1116+1089C>T