Canonical Allele Identifier: CA234212601

Gene: BCAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.24829876C>T , CM000674.2:g.24829876C>T	GRCh38
NC_000012.11:g.24982810C>T , CM000674.1:g.24982810C>T	GRCh37
NC_000012.10:g.24874077C>T	NCBI36
NG_008170.1:g.124499G>A
NG_008170.2:g.124499G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005504.7:c.1066G>A MANE Select	NP_005495.2:p.Glu356Lys
ENST00000261192.12:c.1066G>A MANE Select	ENSP00000261192.7:p.Glu356Lys
NM_001178091.1:c.955G>A	NP_001171562.1:p.Glu319Lys
NM_001178091.2:c.955G>A	NP_001171562.1:p.Glu319Lys
NM_001178092.1:c.883G>A	NP_001171563.1:p.Glu295Lys
NM_001178092.2:c.883G>A	NP_001171563.1:p.Glu295Lys
NM_001178093.1:c.1102G>A	NP_001171564.1:p.Glu368Lys
NM_001178093.2:c.1102G>A	NP_001171564.1:p.Glu368Lys
NM_001178094.1:c.1063G>A	NP_001171565.1:p.Glu355Lys
NM_001178094.2:c.1063G>A	NP_001171565.1:p.Glu355Lys
NM_005504.6:c.1066G>A	NP_005495.2:p.Glu356Lys
ENST00000261192.11:c.1066G>A	ENSP00000261192.7:p.Glu356Lys
ENST00000342945.9:c.883G>A	ENSP00000339805.5:p.Glu295Lys
ENST00000538118.5:c.1063G>A	ENSP00000440817.1:p.Glu355Lys
ENST00000539282.5:c.1102G>A	ENSP00000443459.1:p.Glu368Lys
ENST00000539780.5:c.955G>A	ENSP00000440827.1:p.Glu319Lys
ENST00000543099.1:n.121G>A
XM_011520810.1:c.1102G>A	XP_011519112.1:p.Glu368Lys
XM_017019768.2:c.1168G>A	XP_016875257.1:p.Glu390Lys
XR_001748835.2:n.4118G>A
XR_001749047.1:n.3978-825C>T
XR_001749048.2:n.3978-825C>T
XR_001749049.1:n.3885-825C>T
XR_931441.1:n.1532-825C>T
XR_931442.1:n.1532-825C>T
XR_931443.1:n.1439-825C>T