Canonical Allele Identifier: CA380834797

Gene: BEST1

Linked Data

• gnomAD v4: 11-61955846-C-A
• MyVariant Identifiers: chr11:g.61723318C>A (hg19) ; chr11:g.61955846C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955846C>A , CM000673.2:g.61955846C>A	GRCh38
NC_000011.9:g.61723318C>A , CM000673.1:g.61723318C>A	GRCh37
NC_000011.8:g.61479894C>A	NCBI36
NG_009033.1:g.10963C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.376C>A MANE Select	ENSP00000367282.4:p.Arg126Ser
ENST00000378043.8:c.376C>A	ENSP00000367282.4:p.Arg126Ser
ENST00000449131.6:c.196C>A	ENSP00000399709.2:p.Arg66Ser
ENST00000524877.5:n.808C>A
ENST00000524926.5:c.376C>A	ENSP00000432681.1:p.Arg126Ser
ENST00000526988.1:c.58C>A	ENSP00000433195.1:p.Arg20Ser
ENST00000529265.5:n.299C>A
ENST00000533521.5:n.1000C>A
ENST00000534553.5:c.58C>A	ENSP00000431189.1:p.Arg20Ser
NM_001139443.1:c.196C>A	NP_001132915.1:p.Arg66Ser
NM_001300786.1:c.196C>A	NP_001287715.1:p.Arg66Ser
NM_001300787.1:c.196C>A	NP_001287716.1:p.Arg66Ser
NM_004183.3:c.376C>A	NP_004174.1:p.Arg126Ser
XM_005274210.2:c.376C>A	XP_005274267.1:p.Arg126Ser
XM_005274215.2:c.58C>A	XP_005274272.1:p.Arg20Ser
XM_005274216.2:c.196C>A	XP_005274273.1:p.Arg66Ser
XM_005274218.3:c.58C>A	XP_005274275.1:p.Arg20Ser
XM_005274219.2:c.376C>A	XP_005274276.1:p.Arg126Ser
XM_005274221.2:c.376C>A	XP_005274278.1:p.Arg126Ser
XM_011545229.1:c.376C>A	XP_011543531.1:p.Arg126Ser
XM_011545230.1:c.283C>A	XP_011543532.1:p.Arg95Ser
XM_011545231.1:c.58C>A	XP_011543533.1:p.Arg20Ser
XM_011545232.1:c.376C>A	XP_011543534.1:p.Arg126Ser
NM_001363591.1:c.58C>A	NP_001350520.1:p.Arg20Ser
NM_001363592.1:c.376C>A	NP_001350521.1:p.Arg126Ser
NM_001363593.1:c.-800C>A	NP_001350522.1:n.-800C>A
NR_134580.1:n.956C>A
XM_005274210.4:c.376C>A	XP_005274267.1:p.Arg126Ser
XM_005274215.4:c.58C>A	XP_005274272.1:p.Arg20Ser
XM_005274216.4:c.196C>A	XP_005274273.1:p.Arg66Ser
XM_005274219.4:c.376C>A	XP_005274276.1:p.Arg126Ser
XM_005274221.4:c.376C>A	XP_005274278.1:p.Arg126Ser
XM_011545229.3:c.376C>A	XP_011543531.1:p.Arg126Ser
XM_011545230.3:c.283C>A	XP_011543532.1:p.Arg95Ser
XM_017018230.2:c.58C>A	XP_016873719.1:p.Arg20Ser
XR_001747952.2:n.874C>A
XR_001747953.2:n.1066C>A
XR_001747954.2:n.1066C>A
XR_002957249.1:n.1892G>T
NM_004183.4:c.376C>A MANE Select	NP_004174.1:p.Arg126Ser
NM_001139443.2:c.196C>A	NP_001132915.1:p.Arg66Ser
NM_001300786.2:c.196C>A	NP_001287715.1:p.Arg66Ser
NM_001300787.2:c.196C>A	NP_001287716.1:p.Arg66Ser
NM_001363591.2:c.58C>A	NP_001350520.1:p.Arg20Ser
NM_001363593.2:c.-800C>A	NP_001350522.1:n.-800C>A
NR_134580.2:n.489C>A