Canonical Allele Identifier: CA380846327

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61960002G>T , CM000673.2:g.61960002G>T GRCh38
NC_000011.9:g.61727474G>T , CM000673.1:g.61727474G>T GRCh37
NC_000011.8:g.61484050G>T NCBI36
NG_009033.1:g.15119G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.1059G>T (BEST1) MANE Select ENSP00000367282.4:p.Gln353His
ENST00000378043.8:c.1059G>T (BEST1) ENSP00000367282.4:p.Gln353His
ENST00000449131.6:c.879G>T (BEST1) ENSP00000399709.2:p.Gln293His
ENST00000524877.5:n.2690G>T (BEST1)
ENST00000524926.5:c.1262G>T (BEST1) ENSP00000432681.1:p.Ser421Ile
ENST00000526988.1:c.944G>T (BEST1) ENSP00000433195.1:p.Ser315Ile
ENST00000529191.5:c.115-75C>A (FTH1) ENSP00000431659.1:n.115-75C>A
ENST00000529631.5:c.115-98C>A (FTH1) ENSP00000431575.1:n.115-98C>A
ENST00000530019.5:c.262-98C>A (FTH1) ENSP00000433470.1:n.262-98C>A
ENST00000534553.5:c.164-2253G>T (BEST1) ENSP00000431189.1:n.164-2253G>T
NM_001139443.1:c.879G>T (BEST1) NP_001132915.1:p.Gln293His
NM_001300786.1:c.798G>T (BEST1) NP_001287715.1:p.Gln266His
NM_001300787.1:c.879G>T (BEST1) NP_001287716.1:p.Gln293His
NM_004183.3:c.1059G>T (BEST1) NP_004174.1:p.Gln353His
XM_005274210.2:c.1059G>T (BEST1) XP_005274267.1:p.Gln353His
XM_005274215.2:c.741G>T (BEST1) XP_005274272.1:p.Gln247His
XM_005274216.2:c.1082G>T (BEST1) XP_005274273.1:p.Ser361Ile
XM_005274218.3:c.944G>T (BEST1) XP_005274275.1:p.Ser315Ile
XM_005274219.2:c.867+1704G>T (BEST1) XP_005274276.1:n.867+1704G>T
XM_005274221.2:c.715-2253G>T (BEST1) XP_005274278.1:n.715-2253G>T
XM_011545229.1:c.1059G>T (BEST1) XP_011543531.1:p.Gln353His
XM_011545230.1:c.966G>T (BEST1) XP_011543532.1:p.Gln322His
XM_011545231.1:c.741G>T (BEST1) XP_011543533.1:p.Gln247His
XM_011545232.1:c.1262G>T (BEST1) XP_011543534.1:p.Ser421Ile
XM_011545233.1:c.216G>T (BEST1) XP_011543535.1:p.Gln72His
NM_001363591.1:c.741G>T (BEST1) NP_001350520.1:p.Gln247His
NM_001363592.1:c.1262G>T (BEST1) NP_001350521.1:p.Ser421Ile
NM_001363593.1:c.87G>T (BEST1) NP_001350522.1:p.Gln29His
NR_134580.1:n.1842G>T (BEST1)
XM_005274210.4:c.1059G>T (BEST1) XP_005274267.1:p.Gln353His
XM_005274215.4:c.741G>T (BEST1) XP_005274272.1:p.Gln247His
XM_005274216.4:c.1082G>T (BEST1) XP_005274273.1:p.Ser361Ile
XM_005274219.4:c.867+1704G>T (BEST1) XP_005274276.1:n.867+1704G>T
XM_005274221.4:c.715-2253G>T (BEST1) XP_005274278.1:n.715-2253G>T
XM_011545229.3:c.1059G>T (BEST1) XP_011543531.1:p.Gln353His
XM_011545230.3:c.966G>T (BEST1) XP_011543532.1:p.Gln322His
XM_011545233.3:c.216G>T (BEST1) XP_011543535.1:p.Gln72His
XM_017018230.2:c.944G>T (BEST1) XP_016873719.1:p.Ser315Ile
XR_001747952.2:n.1760G>T (BEST1)
XR_001747953.2:n.1557+1704G>T (BEST1)
XR_001747954.2:n.1405-2253G>T (BEST1)
NM_004183.4:c.1059G>T (BEST1) MANE Select NP_004174.1:p.Gln353His
NM_001139443.2:c.879G>T (BEST1) NP_001132915.1:p.Gln293His
NM_001300786.2:c.798G>T (BEST1) NP_001287715.1:p.Gln266His
NM_001300787.2:c.879G>T (BEST1) NP_001287716.1:p.Gln293His
NM_001363591.2:c.741G>T (BEST1) NP_001350520.1:p.Gln247His
NM_001363593.2:c.87G>T (BEST1) NP_001350522.1:p.Gln29His
NR_134580.2:n.1375G>T (BEST1)