Canonical Allele Identifier: CA391199930

Gene: BRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105272742A>T , CM000676.2:g.105272742A>T	GRCh38
NC_000014.8:g.105739079A>T , CM000676.1:g.105739079A>T	GRCh37
NC_000014.7:g.104810124A>T	NCBI36
NG_029489.1:g.47836T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547530.7:c.418T>A MANE Select	ENSP00000448387.2:p.Cys140Ser
ENST00000327359.7:c.73T>A	ENSP00000329029.3:p.Cys25Ser
ENST00000379937.6:c.337T>A	ENSP00000369269.2:p.Cys113Ser
ENST00000440513.7:c.73T>A	ENSP00000388877.3:p.Cys25Ser
ENST00000546417.5:c.104+13554T>A
ENST00000547530.6:c.418T>A	ENSP00000448387.2:p.Cys140Ser
ENST00000548421.2:c.418T>A	ENSP00000446707.1:p.Cys140Ser
ENST00000550692.1:c.73T>A	ENSP00000448823.1:p.Cys25Ser
ENST00000619151.4:c.-195T>A	ENSP00000480452.1:n.-195T>A
NM_001242786.1:c.73T>A	NP_001229715.1:p.Cys25Ser
NM_001242787.1:c.73T>A	NP_001229716.1:p.Cys25Ser
NM_001242788.1:c.337T>A	NP_001229717.1:p.Cys113Ser
NM_001242790.1:c.418T>A	NP_001229719.1:p.Cys140Ser
NM_001519.3:c.418T>A	NP_001510.2:p.Cys140Ser
XM_005267561.3:c.418T>A	XP_005267618.1:p.Cys140Ser
XM_011536672.1:c.418T>A	XP_011534974.1:p.Cys140Ser
XM_011536673.1:c.418T>A	XP_011534975.1:p.Cys140Ser
XM_005267561.4:c.418T>A	XP_005267618.1:p.Cys140Ser
XM_011536672.3:c.418T>A	XP_011534974.1:p.Cys140Ser
XM_011536673.2:c.418T>A	XP_011534975.1:p.Cys140Ser
NM_001519.4:c.418T>A MANE Select	NP_001510.2:p.Cys140Ser
NM_001242788.2:c.337T>A	NP_001229717.1:p.Cys113Ser
NM_001242790.2:c.418T>A	NP_001229719.1:p.Cys140Ser
NM_001242786.2:c.73T>A	NP_001229715.1:p.Cys25Ser
NM_001242787.2:c.73T>A	NP_001229716.1:p.Cys25Ser