Canonical Allele Identifier: CA234211554

Gene: BCAT1

Linked Data

• dbSNP Id: rs550412322
• gnomAD v3: 12-24828704-T-A
• gnomAD v4: 12-24828704-T-A
• MyVariant Identifiers: chr12:g.24981638T>A (hg19) ; chr12:g.24828704T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.24828704T>A , CM000674.2:g.24828704T>A	GRCh38
NC_000012.11:g.24981638T>A , CM000674.1:g.24981638T>A	GRCh37
NC_000012.10:g.24872905T>A	NCBI36
NG_008170.1:g.125671A>T
NG_008170.2:g.125671A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261192.12:c.1119+1119A>T MANE Select	ENSP00000261192.7:n.1119+1119A>T
ENST00000261192.11:c.1119+1119A>T	ENSP00000261192.7:n.1119+1119A>T
ENST00000342945.9:c.936+1119A>T	ENSP00000339805.5:n.936+1119A>T
ENST00000538118.5:c.1116+1119A>T	ENSP00000440817.1:n.1116+1119A>T
ENST00000539282.5:c.1155+1119A>T	ENSP00000443459.1:n.1155+1119A>T
ENST00000539780.5:c.1008+1119A>T	ENSP00000440827.1:n.1008+1119A>T
ENST00000543099.1:n.174+1119A>T
NM_001178091.1:c.1008+1119A>T	NP_001171562.1:n.1008+1119A>T
NM_001178092.1:c.936+1119A>T	NP_001171563.1:n.936+1119A>T
NM_001178093.1:c.1155+1119A>T	NP_001171564.1:n.1155+1119A>T
NM_001178094.1:c.1116+1119A>T	NP_001171565.1:n.1116+1119A>T
NM_005504.6:c.1119+1119A>T	NP_005495.2:n.1119+1119A>T
XM_011520810.1:c.1155+1119A>T	XP_011519112.1:n.1155+1119A>T
XR_931441.1:n.1532-1997T>A
XR_931442.1:n.1532-1997T>A
XR_931443.1:n.1439-1997T>A
XM_017019768.2:c.1221+1119A>T	XP_016875257.1:n.1221+1119A>T
XR_001748835.2:n.4171+1119A>T
XR_001749047.1:n.3978-1997T>A
XR_001749048.2:n.3978-1997T>A
XR_001749049.1:n.3885-1997T>A
NM_005504.7:c.1119+1119A>T MANE Select	NP_005495.2:n.1119+1119A>T
NM_001178091.2:c.1008+1119A>T	NP_001171562.1:n.1008+1119A>T
NM_001178092.2:c.936+1119A>T	NP_001171563.1:n.936+1119A>T
NM_001178093.2:c.1155+1119A>T	NP_001171564.1:n.1155+1119A>T
NM_001178094.2:c.1116+1119A>T	NP_001171565.1:n.1116+1119A>T