Canonical Allele Identifier: CA380834732

Gene: BEST1

Linked Data

• ClinVar Variation Id: 1676943
• ClinVar RCV Id: RCV002222859
• dbSNP Id: rs767103810
• gnomAD v4: 11-61955835-G-C
• MyVariant Identifiers: chr11:g.61723307G>C (hg19) ; chr11:g.61955835G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955835G>C , CM000673.2:g.61955835G>C	GRCh38
NC_000011.9:g.61723307G>C , CM000673.1:g.61723307G>C	GRCh37
NC_000011.8:g.61479883G>C	NCBI36
NG_009033.1:g.10952G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.365G>C MANE Select	ENSP00000367282.4:p.Arg122Pro
ENST00000378043.8:c.365G>C	ENSP00000367282.4:p.Arg122Pro
ENST00000449131.6:c.185G>C	ENSP00000399709.2:p.Arg62Pro
ENST00000524877.5:n.797G>C
ENST00000524926.5:c.365G>C	ENSP00000432681.1:p.Arg122Pro
ENST00000526988.1:c.47G>C	ENSP00000433195.1:p.Arg16Pro
ENST00000529265.5:n.288G>C
ENST00000533521.5:n.989G>C
ENST00000534553.5:c.47G>C	ENSP00000431189.1:p.Arg16Pro
NM_001139443.1:c.185G>C	NP_001132915.1:p.Arg62Pro
NM_001300786.1:c.185G>C	NP_001287715.1:p.Arg62Pro
NM_001300787.1:c.185G>C	NP_001287716.1:p.Arg62Pro
NM_004183.3:c.365G>C	NP_004174.1:p.Arg122Pro
XM_005274210.2:c.365G>C	XP_005274267.1:p.Arg122Pro
XM_005274215.2:c.47G>C	XP_005274272.1:p.Arg16Pro
XM_005274216.2:c.185G>C	XP_005274273.1:p.Arg62Pro
XM_005274218.3:c.47G>C	XP_005274275.1:p.Arg16Pro
XM_005274219.2:c.365G>C	XP_005274276.1:p.Arg122Pro
XM_005274221.2:c.365G>C	XP_005274278.1:p.Arg122Pro
XM_011545229.1:c.365G>C	XP_011543531.1:p.Arg122Pro
XM_011545230.1:c.272G>C	XP_011543532.1:p.Arg91Pro
XM_011545231.1:c.47G>C	XP_011543533.1:p.Arg16Pro
XM_011545232.1:c.365G>C	XP_011543534.1:p.Arg122Pro
NM_001363591.1:c.47G>C	NP_001350520.1:p.Arg16Pro
NM_001363592.1:c.365G>C	NP_001350521.1:p.Arg122Pro
NM_001363593.1:c.-811G>C	NP_001350522.1:n.-811G>C
NR_134580.1:n.945G>C
XM_005274210.4:c.365G>C	XP_005274267.1:p.Arg122Pro
XM_005274215.4:c.47G>C	XP_005274272.1:p.Arg16Pro
XM_005274216.4:c.185G>C	XP_005274273.1:p.Arg62Pro
XM_005274219.4:c.365G>C	XP_005274276.1:p.Arg122Pro
XM_005274221.4:c.365G>C	XP_005274278.1:p.Arg122Pro
XM_011545229.3:c.365G>C	XP_011543531.1:p.Arg122Pro
XM_011545230.3:c.272G>C	XP_011543532.1:p.Arg91Pro
XM_017018230.2:c.47G>C	XP_016873719.1:p.Arg16Pro
XR_001747952.2:n.863G>C
XR_001747953.2:n.1055G>C
XR_001747954.2:n.1055G>C
XR_002957249.1:n.1903C>G
NM_004183.4:c.365G>C MANE Select	NP_004174.1:p.Arg122Pro
NM_001139443.2:c.185G>C	NP_001132915.1:p.Arg62Pro
NM_001300786.2:c.185G>C	NP_001287715.1:p.Arg62Pro
NM_001300787.2:c.185G>C	NP_001287716.1:p.Arg62Pro
NM_001363591.2:c.47G>C	NP_001350520.1:p.Arg16Pro
NM_001363593.2:c.-811G>C	NP_001350522.1:n.-811G>C
NR_134580.2:n.478G>C