Canonical Allele Identifier: CA945742936

Gene: BCAT1

Linked Data

• dbSNP Id: rs1591779408
• gnomAD v3: 12-24828745-G-C
• gnomAD v4: 12-24828745-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.24828745G>C , CM000674.2:g.24828745G>C	GRCh38
NC_000012.11:g.24981679G>C , CM000674.1:g.24981679G>C	GRCh37
NC_000012.10:g.24872946G>C	NCBI36
NG_008170.1:g.125630C>G
NG_008170.2:g.125630C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261192.12:c.1119+1078C>G MANE Select	ENSP00000261192.7:n.1119+1078C>G
ENST00000261192.11:c.1119+1078C>G	ENSP00000261192.7:n.1119+1078C>G
ENST00000342945.9:c.936+1078C>G	ENSP00000339805.5:n.936+1078C>G
ENST00000538118.5:c.1116+1078C>G	ENSP00000440817.1:n.1116+1078C>G
ENST00000539282.5:c.1155+1078C>G	ENSP00000443459.1:n.1155+1078C>G
ENST00000539780.5:c.1008+1078C>G	ENSP00000440827.1:n.1008+1078C>G
ENST00000543099.1:n.174+1078C>G
NM_001178091.1:c.1008+1078C>G	NP_001171562.1:n.1008+1078C>G
NM_001178092.1:c.936+1078C>G	NP_001171563.1:n.936+1078C>G
NM_001178093.1:c.1155+1078C>G	NP_001171564.1:n.1155+1078C>G
NM_001178094.1:c.1116+1078C>G	NP_001171565.1:n.1116+1078C>G
NM_005504.6:c.1119+1078C>G	NP_005495.2:n.1119+1078C>G
XM_011520810.1:c.1155+1078C>G	XP_011519112.1:n.1155+1078C>G
XR_931441.1:n.1532-1956G>C
XR_931442.1:n.1532-1956G>C
XR_931443.1:n.1439-1956G>C
XM_017019768.2:c.1221+1078C>G	XP_016875257.1:n.1221+1078C>G
XR_001748835.2:n.4171+1078C>G
XR_001749047.1:n.3978-1956G>C
XR_001749048.2:n.3978-1956G>C
XR_001749049.1:n.3885-1956G>C
NM_005504.7:c.1119+1078C>G MANE Select	NP_005495.2:n.1119+1078C>G
NM_001178091.2:c.1008+1078C>G	NP_001171562.1:n.1008+1078C>G
NM_001178092.2:c.936+1078C>G	NP_001171563.1:n.936+1078C>G
NM_001178093.2:c.1155+1078C>G	NP_001171564.1:n.1155+1078C>G
NM_001178094.2:c.1116+1078C>G	NP_001171565.1:n.1116+1078C>G