Canonical Allele Identifier: CA603676500

Gene: BCAT1

Linked Data

• dbSNP Id: rs1316362708
• gnomAD v2: 12-24981281-T-A
• gnomAD v3: 12-24828347-T-A
• gnomAD v4: 12-24828347-T-A
• MyVariant Identifiers: chr12:g.24981281T>A (hg19) ; chr12:g.24828347T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.24828347T>A , CM000674.2:g.24828347T>A	GRCh38
NC_000012.11:g.24981281T>A , CM000674.1:g.24981281T>A	GRCh37
NC_000012.10:g.24872548T>A	NCBI36
NG_008170.1:g.126028A>T
NG_008170.2:g.126028A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261192.12:c.1119+1476A>T MANE Select	ENSP00000261192.7:n.1119+1476A>T
ENST00000261192.11:c.1119+1476A>T	ENSP00000261192.7:n.1119+1476A>T
ENST00000342945.9:c.936+1476A>T	ENSP00000339805.5:n.936+1476A>T
ENST00000538118.5:c.1116+1476A>T	ENSP00000440817.1:n.1116+1476A>T
ENST00000539282.5:c.1155+1476A>T	ENSP00000443459.1:n.1155+1476A>T
ENST00000539780.5:c.1008+1476A>T	ENSP00000440827.1:n.1008+1476A>T
ENST00000543099.1:n.174+1476A>T
NM_001178091.1:c.1008+1476A>T	NP_001171562.1:n.1008+1476A>T
NM_001178092.1:c.936+1476A>T	NP_001171563.1:n.936+1476A>T
NM_001178093.1:c.1155+1476A>T	NP_001171564.1:n.1155+1476A>T
NM_001178094.1:c.1116+1476A>T	NP_001171565.1:n.1116+1476A>T
NM_005504.6:c.1119+1476A>T	NP_005495.2:n.1119+1476A>T
XM_011520810.1:c.1155+1476A>T	XP_011519112.1:n.1155+1476A>T
XR_931441.1:n.1532-2354T>A
XR_931442.1:n.1532-2354T>A
XR_931443.1:n.1439-2354T>A
XM_017019768.2:c.1221+1476A>T	XP_016875257.1:n.1221+1476A>T
XR_001748835.2:n.4171+1476A>T
XR_001749047.1:n.3978-2354T>A
XR_001749048.2:n.3978-2354T>A
XR_001749049.1:n.3885-2354T>A
NM_005504.7:c.1119+1476A>T MANE Select	NP_005495.2:n.1119+1476A>T
NM_001178091.2:c.1008+1476A>T	NP_001171562.1:n.1008+1476A>T
NM_001178092.2:c.936+1476A>T	NP_001171563.1:n.936+1476A>T
NM_001178093.2:c.1155+1476A>T	NP_001171564.1:n.1155+1476A>T
NM_001178094.2:c.1116+1476A>T	NP_001171565.1:n.1116+1476A>T