Canonical Allele Identifier: CA2022721818
Gene: BCAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.24828579C= , CM000674.2:g.24828579C= GRCh38
NC_000012.11:g.24981513C= , CM000674.1:g.24981513C= GRCh37
NC_000012.10:g.24872780C= NCBI36
NG_008170.1:g.125796G=
NG_008170.2:g.125796G=

Transcript Alleles

HGVS Amino-acid change
ENST00000261192.12:c.1119+1244G= MANE Select ENSP00000261192.7:n.1119+1244G=
ENST00000261192.11:c.1119+1244G= ENSP00000261192.7:n.1119+1244G=
ENST00000342945.9:c.936+1244G= ENSP00000339805.5:n.936+1244G=
ENST00000538118.5:c.1116+1244G= ENSP00000440817.1:n.1116+1244G=
ENST00000539282.5:c.1155+1244G= ENSP00000443459.1:n.1155+1244G=
ENST00000539780.5:c.1008+1244G= ENSP00000440827.1:n.1008+1244G=
ENST00000543099.1:n.174+1244G=
NM_001178091.1:c.1008+1244G= NP_001171562.1:n.1008+1244G=
NM_001178092.1:c.936+1244G= NP_001171563.1:n.936+1244G=
NM_001178093.1:c.1155+1244G= NP_001171564.1:n.1155+1244G=
NM_001178094.1:c.1116+1244G= NP_001171565.1:n.1116+1244G=
NM_005504.6:c.1119+1244G= NP_005495.2:n.1119+1244G=
XM_011520810.1:c.1155+1244G= XP_011519112.1:n.1155+1244G=
XR_931441.1:n.1532-2122C=
XR_931442.1:n.1532-2122C=
XR_931443.1:n.1439-2122C=
XM_017019768.2:c.1221+1244G= XP_016875257.1:n.1221+1244G=
XR_001748835.2:n.4171+1244G=
XR_001749047.1:n.3978-2122C=
XR_001749048.2:n.3978-2122C=
XR_001749049.1:n.3885-2122C=
NM_005504.7:c.1119+1244G= MANE Select NP_005495.2:n.1119+1244G=
NM_001178091.2:c.1008+1244G= NP_001171562.1:n.1008+1244G=
NM_001178092.2:c.936+1244G= NP_001171563.1:n.936+1244G=
NM_001178093.2:c.1155+1244G= NP_001171564.1:n.1155+1244G=
NM_001178094.2:c.1116+1244G= NP_001171565.1:n.1116+1244G=