Canonical Allele Identifier: CA380844003

Gene: BEST1

Linked Data

• gnomAD v4: 11-61959551-C-G
• MyVariant Identifiers: chr11:g.61727023C>G (hg19) ; chr11:g.61959551C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959551C>G , CM000673.2:g.61959551C>G	GRCh38
NC_000011.9:g.61727023C>G , CM000673.1:g.61727023C>G	GRCh37
NC_000011.8:g.61483599C>G	NCBI36
NG_009033.1:g.14668C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.921C>G MANE Select	ENSP00000367282.4:p.Thr307=
ENST00000378043.8:c.921C>G	ENSP00000367282.4:p.Thr307=
ENST00000449131.6:c.741C>G	ENSP00000399709.2:p.Thr247=
ENST00000524877.5:n.2552C>G
ENST00000524926.5:c.1124C>G	ENSP00000432681.1:p.Pro375Arg
ENST00000526988.1:c.806C>G	ENSP00000433195.1:p.Pro269Arg
ENST00000534553.5:c.164-2704C>G	ENSP00000431189.1:n.164-2704C>G
NM_001139443.1:c.741C>G	NP_001132915.1:p.Thr247=
NM_001300786.1:c.688-341C>G	NP_001287715.1:n.688-341C>G
NM_001300787.1:c.741C>G	NP_001287716.1:p.Thr247=
NM_004183.3:c.921C>G	NP_004174.1:p.Thr307=
XM_005274210.2:c.921C>G	XP_005274267.1:p.Thr307=
XM_005274215.2:c.603C>G	XP_005274272.1:p.Thr201=
XM_005274216.2:c.944C>G	XP_005274273.1:p.Pro315Arg
XM_005274218.3:c.806C>G	XP_005274275.1:p.Pro269Arg
XM_005274219.2:c.867+1253C>G	XP_005274276.1:n.867+1253C>G
XM_005274221.2:c.714+2087C>G	XP_005274278.1:n.714+2087C>G
XM_011545229.1:c.921C>G	XP_011543531.1:p.Thr307=
XM_011545230.1:c.828C>G	XP_011543532.1:p.Thr276=
XM_011545231.1:c.603C>G	XP_011543533.1:p.Thr201=
XM_011545232.1:c.1124C>G	XP_011543534.1:p.Pro375Arg
XM_011545233.1:c.78C>G	XP_011543535.1:p.Thr26=
NM_001363591.1:c.603C>G	NP_001350520.1:p.Thr201=
NM_001363592.1:c.1124C>G	NP_001350521.1:p.Pro375Arg
NM_001363593.1:c.-52C>G	NP_001350522.1:n.-52C>G
NR_134580.1:n.1704C>G
XM_005274210.4:c.921C>G	XP_005274267.1:p.Thr307=
XM_005274215.4:c.603C>G	XP_005274272.1:p.Thr201=
XM_005274216.4:c.944C>G	XP_005274273.1:p.Pro315Arg
XM_005274219.4:c.867+1253C>G	XP_005274276.1:n.867+1253C>G
XM_005274221.4:c.714+2087C>G	XP_005274278.1:n.714+2087C>G
XM_011545229.3:c.921C>G	XP_011543531.1:p.Thr307=
XM_011545230.3:c.828C>G	XP_011543532.1:p.Thr276=
XM_011545233.3:c.78C>G	XP_011543535.1:p.Thr26=
XM_017018230.2:c.806C>G	XP_016873719.1:p.Pro269Arg
XR_001747952.2:n.1622C>G
XR_001747953.2:n.1557+1253C>G
XR_001747954.2:n.1404+2087C>G
XR_001748245.1:n.196+181G>C
XR_002957249.1:n.196+181G>C
NM_004183.4:c.921C>G MANE Select	NP_004174.1:p.Thr307=
NM_001139443.2:c.741C>G	NP_001132915.1:p.Thr247=
NM_001300786.2:c.688-341C>G	NP_001287715.1:n.688-341C>G
NM_001300787.2:c.741C>G	NP_001287716.1:p.Thr247=
NM_001363591.2:c.603C>G	NP_001350520.1:p.Thr201=
NM_001363593.2:c.-52C>G	NP_001350522.1:n.-52C>G
NR_134580.2:n.1237C>G