Canonical Allele Identifier: CA380843729

Gene: BEST1

Linked Data

• dbSNP Id: rs1941810660
• gnomAD v3: 11-61959515-C-A
• gnomAD v4: 11-61959515-C-A
• MyVariant Identifiers: chr11:g.61726987C>A (hg19) ; chr11:g.61959515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959515C>A , CM000673.2:g.61959515C>A	GRCh38
NC_000011.9:g.61726987C>A , CM000673.1:g.61726987C>A	GRCh37
NC_000011.8:g.61483563C>A	NCBI36
NG_009033.1:g.14632C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.885C>A MANE Select	ENSP00000367282.4:p.Ile295=
ENST00000378043.8:c.885C>A	ENSP00000367282.4:p.Ile295=
ENST00000449131.6:c.705C>A	ENSP00000399709.2:p.Ile235=
ENST00000524877.5:n.2516C>A
ENST00000524926.5:c.1088C>A	ENSP00000432681.1:p.Ser363Ter
ENST00000526988.1:c.770C>A	ENSP00000433195.1:p.Ser257Ter
ENST00000534553.5:c.164-2740C>A	ENSP00000431189.1:n.164-2740C>A
NM_001139443.1:c.705C>A	NP_001132915.1:p.Ile235=
NM_001300786.1:c.688-377C>A	NP_001287715.1:n.688-377C>A
NM_001300787.1:c.705C>A	NP_001287716.1:p.Ile235=
NM_004183.3:c.885C>A	NP_004174.1:p.Ile295=
XM_005274210.2:c.885C>A	XP_005274267.1:p.Ile295=
XM_005274215.2:c.567C>A	XP_005274272.1:p.Ile189=
XM_005274216.2:c.908C>A	XP_005274273.1:p.Ser303Ter
XM_005274218.3:c.770C>A	XP_005274275.1:p.Ser257Ter
XM_005274219.2:c.867+1217C>A	XP_005274276.1:n.867+1217C>A
XM_005274221.2:c.714+2051C>A	XP_005274278.1:n.714+2051C>A
XM_011545229.1:c.885C>A	XP_011543531.1:p.Ile295=
XM_011545230.1:c.792C>A	XP_011543532.1:p.Ile264=
XM_011545231.1:c.567C>A	XP_011543533.1:p.Ile189=
XM_011545232.1:c.1088C>A	XP_011543534.1:p.Ser363Ter
XM_011545233.1:c.42C>A	XP_011543535.1:p.Ile14=
NM_001363591.1:c.567C>A	NP_001350520.1:p.Ile189=
NM_001363592.1:c.1088C>A	NP_001350521.1:p.Ser363Ter
NM_001363593.1:c.-88C>A	NP_001350522.1:n.-88C>A
NR_134580.1:n.1668C>A
XM_005274210.4:c.885C>A	XP_005274267.1:p.Ile295=
XM_005274215.4:c.567C>A	XP_005274272.1:p.Ile189=
XM_005274216.4:c.908C>A	XP_005274273.1:p.Ser303Ter
XM_005274219.4:c.867+1217C>A	XP_005274276.1:n.867+1217C>A
XM_005274221.4:c.714+2051C>A	XP_005274278.1:n.714+2051C>A
XM_011545229.3:c.885C>A	XP_011543531.1:p.Ile295=
XM_011545230.3:c.792C>A	XP_011543532.1:p.Ile264=
XM_011545233.3:c.42C>A	XP_011543535.1:p.Ile14=
XM_017018230.2:c.770C>A	XP_016873719.1:p.Ser257Ter
XR_001747952.2:n.1586C>A
XR_001747953.2:n.1557+1217C>A
XR_001747954.2:n.1404+2051C>A
XR_001748245.1:n.196+217G>T
XR_002957249.1:n.196+217G>T
NM_004183.4:c.885C>A MANE Select	NP_004174.1:p.Ile295=
NM_001139443.2:c.705C>A	NP_001132915.1:p.Ile235=
NM_001300786.2:c.688-377C>A	NP_001287715.1:n.688-377C>A
NM_001300787.2:c.705C>A	NP_001287716.1:p.Ile235=
NM_001363591.2:c.567C>A	NP_001350520.1:p.Ile189=
NM_001363593.2:c.-88C>A	NP_001350522.1:n.-88C>A
NR_134580.2:n.1201C>A