Canonical Allele Identifier: CA380846273

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61959983A>T , CM000673.2:g.61959983A>T GRCh38
NC_000011.9:g.61727455A>T , CM000673.1:g.61727455A>T GRCh37
NC_000011.8:g.61484031A>T NCBI36
NG_009033.1:g.15100A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.1040A>T (BEST1) MANE Select ENSP00000367282.4:p.Tyr347Phe
ENST00000378043.8:c.1040A>T (BEST1) ENSP00000367282.4:p.Tyr347Phe
ENST00000449131.6:c.860A>T (BEST1) ENSP00000399709.2:p.Tyr287Phe
ENST00000524877.5:n.2671A>T (BEST1)
ENST00000524926.5:c.1243A>T (BEST1) ENSP00000432681.1:p.Thr415Ser
ENST00000526988.1:c.925A>T (BEST1) ENSP00000433195.1:p.Thr309Ser
ENST00000529191.5:c.115-56T>A (FTH1) ENSP00000431659.1:n.115-56T>A
ENST00000529631.5:c.115-79T>A (FTH1) ENSP00000431575.1:n.115-79T>A
ENST00000530019.5:c.262-79T>A (FTH1) ENSP00000433470.1:n.262-79T>A
ENST00000534553.5:c.164-2272A>T (BEST1) ENSP00000431189.1:n.164-2272A>T
NM_001139443.1:c.860A>T (BEST1) NP_001132915.1:p.Tyr287Phe
NM_001300786.1:c.779A>T (BEST1) NP_001287715.1:p.Tyr260Phe
NM_001300787.1:c.860A>T (BEST1) NP_001287716.1:p.Tyr287Phe
NM_004183.3:c.1040A>T (BEST1) NP_004174.1:p.Tyr347Phe
XM_005274210.2:c.1040A>T (BEST1) XP_005274267.1:p.Tyr347Phe
XM_005274215.2:c.722A>T (BEST1) XP_005274272.1:p.Tyr241Phe
XM_005274216.2:c.1063A>T (BEST1) XP_005274273.1:p.Thr355Ser
XM_005274218.3:c.925A>T (BEST1) XP_005274275.1:p.Thr309Ser
XM_005274219.2:c.867+1685A>T (BEST1) XP_005274276.1:n.867+1685A>T
XM_005274221.2:c.715-2272A>T (BEST1) XP_005274278.1:n.715-2272A>T
XM_011545229.1:c.1040A>T (BEST1) XP_011543531.1:p.Tyr347Phe
XM_011545230.1:c.947A>T (BEST1) XP_011543532.1:p.Tyr316Phe
XM_011545231.1:c.722A>T (BEST1) XP_011543533.1:p.Tyr241Phe
XM_011545232.1:c.1243A>T (BEST1) XP_011543534.1:p.Thr415Ser
XM_011545233.1:c.197A>T (BEST1) XP_011543535.1:p.Tyr66Phe
NM_001363591.1:c.722A>T (BEST1) NP_001350520.1:p.Tyr241Phe
NM_001363592.1:c.1243A>T (BEST1) NP_001350521.1:p.Thr415Ser
NM_001363593.1:c.68A>T (BEST1) NP_001350522.1:p.Tyr23Phe
NR_134580.1:n.1823A>T (BEST1)
XM_005274210.4:c.1040A>T (BEST1) XP_005274267.1:p.Tyr347Phe
XM_005274215.4:c.722A>T (BEST1) XP_005274272.1:p.Tyr241Phe
XM_005274216.4:c.1063A>T (BEST1) XP_005274273.1:p.Thr355Ser
XM_005274219.4:c.867+1685A>T (BEST1) XP_005274276.1:n.867+1685A>T
XM_005274221.4:c.715-2272A>T (BEST1) XP_005274278.1:n.715-2272A>T
XM_011545229.3:c.1040A>T (BEST1) XP_011543531.1:p.Tyr347Phe
XM_011545230.3:c.947A>T (BEST1) XP_011543532.1:p.Tyr316Phe
XM_011545233.3:c.197A>T (BEST1) XP_011543535.1:p.Tyr66Phe
XM_017018230.2:c.925A>T (BEST1) XP_016873719.1:p.Thr309Ser
XR_001747952.2:n.1741A>T (BEST1)
XR_001747953.2:n.1557+1685A>T (BEST1)
XR_001747954.2:n.1405-2272A>T (BEST1)
NM_004183.4:c.1040A>T (BEST1) MANE Select NP_004174.1:p.Tyr347Phe
NM_001139443.2:c.860A>T (BEST1) NP_001132915.1:p.Tyr287Phe
NM_001300786.2:c.779A>T (BEST1) NP_001287715.1:p.Tyr260Phe
NM_001300787.2:c.860A>T (BEST1) NP_001287716.1:p.Tyr287Phe
NM_001363591.2:c.722A>T (BEST1) NP_001350520.1:p.Tyr241Phe
NM_001363593.2:c.68A>T (BEST1) NP_001350522.1:p.Tyr23Phe
NR_134580.2:n.1356A>T (BEST1)