Canonical Allele Identifier: CA945742848

Gene: BCAT1

Linked Data

• dbSNP Id: rs1176179493
• gnomAD v3: 12-24828481-T-G
• gnomAD v4: 12-24828481-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.24828481T>G , CM000674.2:g.24828481T>G	GRCh38
NC_000012.11:g.24981415T>G , CM000674.1:g.24981415T>G	GRCh37
NC_000012.10:g.24872682T>G	NCBI36
NG_008170.1:g.125894A>C
NG_008170.2:g.125894A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261192.12:c.1119+1342A>C MANE Select	ENSP00000261192.7:n.1119+1342A>C
ENST00000261192.11:c.1119+1342A>C	ENSP00000261192.7:n.1119+1342A>C
ENST00000342945.9:c.936+1342A>C	ENSP00000339805.5:n.936+1342A>C
ENST00000538118.5:c.1116+1342A>C	ENSP00000440817.1:n.1116+1342A>C
ENST00000539282.5:c.1155+1342A>C	ENSP00000443459.1:n.1155+1342A>C
ENST00000539780.5:c.1008+1342A>C	ENSP00000440827.1:n.1008+1342A>C
ENST00000543099.1:n.174+1342A>C
NM_001178091.1:c.1008+1342A>C	NP_001171562.1:n.1008+1342A>C
NM_001178092.1:c.936+1342A>C	NP_001171563.1:n.936+1342A>C
NM_001178093.1:c.1155+1342A>C	NP_001171564.1:n.1155+1342A>C
NM_001178094.1:c.1116+1342A>C	NP_001171565.1:n.1116+1342A>C
NM_005504.6:c.1119+1342A>C	NP_005495.2:n.1119+1342A>C
XM_011520810.1:c.1155+1342A>C	XP_011519112.1:n.1155+1342A>C
XR_931441.1:n.1532-2220T>G
XR_931442.1:n.1532-2220T>G
XR_931443.1:n.1439-2220T>G
XM_017019768.2:c.1221+1342A>C	XP_016875257.1:n.1221+1342A>C
XR_001748835.2:n.4171+1342A>C
XR_001749047.1:n.3978-2220T>G
XR_001749048.2:n.3978-2220T>G
XR_001749049.1:n.3885-2220T>G
NM_005504.7:c.1119+1342A>C MANE Select	NP_005495.2:n.1119+1342A>C
NM_001178091.2:c.1008+1342A>C	NP_001171562.1:n.1008+1342A>C
NM_001178092.2:c.936+1342A>C	NP_001171563.1:n.936+1342A>C
NM_001178093.2:c.1155+1342A>C	NP_001171564.1:n.1155+1342A>C
NM_001178094.2:c.1116+1342A>C	NP_001171565.1:n.1116+1342A>C