Canonical Allele Identifier: CA380834385

Gene: BEST1

Linked Data

• ClinVar Variation Id: 1041573
• ClinVar RCV Id: RCV001345398
• dbSNP Id: rs1941260986
• gnomAD v4: 11-61955796-T-C
• MyVariant Identifiers: chr11:g.61723268T>C (hg19) ; chr11:g.61955796T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955796T>C , CM000673.2:g.61955796T>C	GRCh38
NC_000011.9:g.61723268T>C , CM000673.1:g.61723268T>C	GRCh37
NC_000011.8:g.61479844T>C	NCBI36
NG_009033.1:g.10913T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.326T>C MANE Select	ENSP00000367282.4:p.Leu109Pro
ENST00000378043.8:c.326T>C	ENSP00000367282.4:p.Leu109Pro
ENST00000449131.6:c.146T>C	ENSP00000399709.2:p.Leu49Pro
ENST00000524877.5:n.758T>C
ENST00000524926.5:c.326T>C	ENSP00000432681.1:p.Leu109Pro
ENST00000526988.1:c.8T>C	ENSP00000433195.1:p.Leu3Pro
ENST00000529265.5:n.249T>C
ENST00000533521.5:n.950T>C
ENST00000534553.5:c.8T>C	ENSP00000431189.1:p.Leu3Pro
NM_001139443.1:c.146T>C	NP_001132915.1:p.Leu49Pro
NM_001300786.1:c.146T>C	NP_001287715.1:p.Leu49Pro
NM_001300787.1:c.146T>C	NP_001287716.1:p.Leu49Pro
NM_004183.3:c.326T>C	NP_004174.1:p.Leu109Pro
XM_005274210.2:c.326T>C	XP_005274267.1:p.Leu109Pro
XM_005274215.2:c.8T>C	XP_005274272.1:p.Leu3Pro
XM_005274216.2:c.146T>C	XP_005274273.1:p.Leu49Pro
XM_005274218.3:c.8T>C	XP_005274275.1:p.Leu3Pro
XM_005274219.2:c.326T>C	XP_005274276.1:p.Leu109Pro
XM_005274221.2:c.326T>C	XP_005274278.1:p.Leu109Pro
XM_011545229.1:c.326T>C	XP_011543531.1:p.Leu109Pro
XM_011545230.1:c.233T>C	XP_011543532.1:p.Leu78Pro
XM_011545231.1:c.8T>C	XP_011543533.1:p.Leu3Pro
XM_011545232.1:c.326T>C	XP_011543534.1:p.Leu109Pro
NM_001363591.1:c.8T>C	NP_001350520.1:p.Leu3Pro
NM_001363592.1:c.326T>C	NP_001350521.1:p.Leu109Pro
NM_001363593.1:c.-850T>C	NP_001350522.1:n.-850T>C
NR_134580.1:n.906T>C
XM_005274210.4:c.326T>C	XP_005274267.1:p.Leu109Pro
XM_005274215.4:c.8T>C	XP_005274272.1:p.Leu3Pro
XM_005274216.4:c.146T>C	XP_005274273.1:p.Leu49Pro
XM_005274219.4:c.326T>C	XP_005274276.1:p.Leu109Pro
XM_005274221.4:c.326T>C	XP_005274278.1:p.Leu109Pro
XM_011545229.3:c.326T>C	XP_011543531.1:p.Leu109Pro
XM_011545230.3:c.233T>C	XP_011543532.1:p.Leu78Pro
XM_017018230.2:c.8T>C	XP_016873719.1:p.Leu3Pro
XR_001747952.2:n.824T>C
XR_001747953.2:n.1016T>C
XR_001747954.2:n.1016T>C
XR_002957249.1:n.1942A>G
NM_004183.4:c.326T>C MANE Select	NP_004174.1:p.Leu109Pro
NM_001139443.2:c.146T>C	NP_001132915.1:p.Leu49Pro
NM_001300786.2:c.146T>C	NP_001287715.1:p.Leu49Pro
NM_001300787.2:c.146T>C	NP_001287716.1:p.Leu49Pro
NM_001363591.2:c.8T>C	NP_001350520.1:p.Leu3Pro
NM_001363593.2:c.-850T>C	NP_001350522.1:n.-850T>C
NR_134580.2:n.439T>C