Canonical Allele Identifier: CA266547482
Gene: BRF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.105212144G>A , CM000676.2:g.105212144G>A GRCh38
NC_000014.8:g.105678481G>A , CM000676.1:g.105678481G>A GRCh37
NC_000014.7:g.104749526G>A NCBI36
NG_029489.1:g.108434C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547530.7:c.1793C>T MANE Select ENSP00000448387.2:p.Thr598Met
ENST00000327359.7:c.1448C>T ENSP00000329029.3:p.Thr483Met
ENST00000379932.8:c.267-2494C>T ENSP00000369264.5:n.267-2494C>T
ENST00000379937.6:c.1712C>T ENSP00000369269.2:p.Thr571Met
ENST00000392557.8:c.1181C>T ENSP00000376340.4:p.Thr394Met
ENST00000440513.7:c.1514C>T ENSP00000388877.3:p.Thr505Met
ENST00000446501.6:c.1079C>T ENSP00000389859.2:p.Thr360Met
ENST00000546997.1:n.1285C>T
ENST00000547374.5:n.1487C>T
ENST00000547530.6:c.1793C>T ENSP00000448387.2:p.Thr598Met
ENST00000551787.5:c.403-2485C>T ENSP00000446901.1:n.403-2485C>T
ENST00000619151.4:c.392-2485C>T ENSP00000480452.1:n.392-2485C>T
ENST00000635152.1:n.1373C>T
NM_001242786.1:c.1514C>T NP_001229715.1:p.Thr505Met
NM_001242787.1:c.1448C>T NP_001229716.1:p.Thr483Met
NM_001242788.1:c.1712C>T NP_001229717.1:p.Thr571Met
NM_001242789.1:c.1079C>T NP_001229718.1:p.Thr360Met
NM_001519.3:c.1793C>T NP_001510.2:p.Thr598Met
NM_145685.2:c.1181C>T NP_663718.1:p.Thr394Met
XM_005267561.3:c.1790C>T XP_005267618.1:p.Thr597Met
XM_005267563.2:c.1181C>T XP_005267620.1:p.Thr394Met
XM_006720123.2:c.1130C>T XP_006720186.1:p.Thr377Met
XM_011536673.1:c.1643C>T XP_011534975.1:p.Thr548Met
XM_011536674.1:c.1280C>T XP_011534976.1:p.Thr427Met
XM_005267561.4:c.1790C>T XP_005267618.1:p.Thr597Met
XM_005267563.4:c.1181C>T XP_005267620.1:p.Thr394Met
XM_011536673.2:c.1643C>T XP_011534975.1:p.Thr548Met
XM_024449553.1:c.1079C>T XP_024305321.1:p.Thr360Met
NM_001519.4:c.1793C>T MANE Select NP_001510.2:p.Thr598Met
NM_001242788.2:c.1712C>T NP_001229717.1:p.Thr571Met
NM_001242786.2:c.1514C>T NP_001229715.1:p.Thr505Met
NM_001242787.2:c.1448C>T NP_001229716.1:p.Thr483Met
NM_001242789.2:c.1079C>T NP_001229718.1:p.Thr360Met
NM_145685.3:c.1181C>T NP_663718.1:p.Thr394Met