Canonical Allele Identifier: CA686712426

Gene: BCAT1

Linked Data

• dbSNP Id: rs1365541878
• gnomAD v3: 12-24828685-C-T
• gnomAD v4: 12-24828685-C-T
• MyVariant Identifiers: chr12:g.24981619C>T (hg19) ; chr12:g.24828685C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.24828685C>T , CM000674.2:g.24828685C>T	GRCh38
NC_000012.11:g.24981619C>T , CM000674.1:g.24981619C>T	GRCh37
NC_000012.10:g.24872886C>T	NCBI36
NG_008170.1:g.125690G>A
NG_008170.2:g.125690G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261192.12:c.1119+1138G>A MANE Select	ENSP00000261192.7:n.1119+1138G>A
ENST00000261192.11:c.1119+1138G>A	ENSP00000261192.7:n.1119+1138G>A
ENST00000342945.9:c.936+1138G>A	ENSP00000339805.5:n.936+1138G>A
ENST00000538118.5:c.1116+1138G>A	ENSP00000440817.1:n.1116+1138G>A
ENST00000539282.5:c.1155+1138G>A	ENSP00000443459.1:n.1155+1138G>A
ENST00000539780.5:c.1008+1138G>A	ENSP00000440827.1:n.1008+1138G>A
ENST00000543099.1:n.174+1138G>A
NM_001178091.1:c.1008+1138G>A	NP_001171562.1:n.1008+1138G>A
NM_001178092.1:c.936+1138G>A	NP_001171563.1:n.936+1138G>A
NM_001178093.1:c.1155+1138G>A	NP_001171564.1:n.1155+1138G>A
NM_001178094.1:c.1116+1138G>A	NP_001171565.1:n.1116+1138G>A
NM_005504.6:c.1119+1138G>A	NP_005495.2:n.1119+1138G>A
XM_011520810.1:c.1155+1138G>A	XP_011519112.1:n.1155+1138G>A
XR_931441.1:n.1532-2016C>T
XR_931442.1:n.1532-2016C>T
XR_931443.1:n.1439-2016C>T
XM_017019768.2:c.1221+1138G>A	XP_016875257.1:n.1221+1138G>A
XR_001748835.2:n.4171+1138G>A
XR_001749047.1:n.3978-2016C>T
XR_001749048.2:n.3978-2016C>T
XR_001749049.1:n.3885-2016C>T
NM_005504.7:c.1119+1138G>A MANE Select	NP_005495.2:n.1119+1138G>A
NM_001178091.2:c.1008+1138G>A	NP_001171562.1:n.1008+1138G>A
NM_001178092.2:c.936+1138G>A	NP_001171563.1:n.936+1138G>A
NM_001178093.2:c.1155+1138G>A	NP_001171564.1:n.1155+1138G>A
NM_001178094.2:c.1116+1138G>A	NP_001171565.1:n.1116+1138G>A