Canonical Allele Identifier: CA474806556

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61725740G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958268G>A , CM000673.2:g.61958268G>A	GRCh38
NC_000011.9:g.61725740G>A , CM000673.1:g.61725740G>A	GRCh37
NC_000011.8:g.61482316G>A	NCBI36
NG_009033.1:g.13385G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.837G>A MANE Select	ENSP00000367282.4:p.Leu279=
ENST00000378043.8:c.837G>A	ENSP00000367282.4:p.Leu279=
ENST00000449131.6:c.657G>A	ENSP00000399709.2:p.Leu219=
ENST00000524877.5:n.1269G>A
ENST00000524926.5:c.837G>A	ENSP00000432681.1:p.Leu279=
ENST00000526988.1:c.519G>A	ENSP00000433195.1:p.Leu173=
ENST00000529265.5:n.760G>A
ENST00000534553.5:c.163+2317G>A	ENSP00000431189.1:n.163+2317G>A
NM_001139443.1:c.657G>A	NP_001132915.1:p.Leu219=
NM_001300786.1:c.657G>A	NP_001287715.1:p.Leu219=
NM_001300787.1:c.657G>A	NP_001287716.1:p.Leu219=
NM_004183.3:c.837G>A	NP_004174.1:p.Leu279=
XM_005274210.2:c.837G>A	XP_005274267.1:p.Leu279=
XM_005274215.2:c.519G>A	XP_005274272.1:p.Leu173=
XM_005274216.2:c.657G>A	XP_005274273.1:p.Leu219=
XM_005274218.3:c.519G>A	XP_005274275.1:p.Leu173=
XM_005274219.2:c.837G>A	XP_005274276.1:p.Leu279=
XM_005274221.2:c.714+804G>A	XP_005274278.1:n.714+804G>A
XM_011545229.1:c.837G>A	XP_011543531.1:p.Leu279=
XM_011545230.1:c.744G>A	XP_011543532.1:p.Leu248=
XM_011545231.1:c.519G>A	XP_011543533.1:p.Leu173=
XM_011545232.1:c.837G>A	XP_011543534.1:p.Leu279=
NM_001363591.1:c.519G>A	NP_001350520.1:p.Leu173=
NM_001363592.1:c.837G>A	NP_001350521.1:p.Leu279=
NM_001363593.1:c.-339G>A	NP_001350522.1:n.-339G>A
NR_134580.1:n.1417G>A
XM_005274210.4:c.837G>A	XP_005274267.1:p.Leu279=
XM_005274215.4:c.519G>A	XP_005274272.1:p.Leu173=
XM_005274216.4:c.657G>A	XP_005274273.1:p.Leu219=
XM_005274219.4:c.837G>A	XP_005274276.1:p.Leu279=
XM_005274221.4:c.714+804G>A	XP_005274278.1:n.714+804G>A
XM_011545229.3:c.837G>A	XP_011543531.1:p.Leu279=
XM_011545230.3:c.744G>A	XP_011543532.1:p.Leu248=
XM_017018230.2:c.519G>A	XP_016873719.1:p.Leu173=
XR_001747952.2:n.1335G>A
XR_001747953.2:n.1527G>A
XR_001747954.2:n.1404+804G>A
XR_001748245.1:n.461C>T
XR_002957249.1:n.461C>T
NM_004183.4:c.837G>A MANE Select	NP_004174.1:p.Leu279=
NM_001139443.2:c.657G>A	NP_001132915.1:p.Leu219=
NM_001300786.2:c.657G>A	NP_001287715.1:p.Leu219=
NM_001300787.2:c.657G>A	NP_001287716.1:p.Leu219=
NM_001363591.2:c.519G>A	NP_001350520.1:p.Leu173=
NM_001363593.2:c.-339G>A	NP_001350522.1:n.-339G>A
NR_134580.2:n.950G>A