Canonical Allele Identifier: CA179803

Gene: BEST1

Linked Data

• ClinVar Variation Id: 99678
• ClinVar RCV Id: RCV000086084 ; RCV000152861 ; RCV000283689 ; RCV000398665 ; RCV000341149 ; RCV001554221 ; RCV001554220 ; RCV003888490
• dbSNP Id: rs1800007
• ExAC: 11:61719387 T / C
• gnomAD v2: 11-61719387-T-C
• gnomAD v3: 11-61951915-T-C
• gnomAD v4: 11-61951915-T-C
• MyVariant Identifiers: chr11:g.61719387T>C (hg19) ; chr11:g.61951915T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61951915T>C , CM000673.2:g.61951915T>C	GRCh38
NC_000011.9:g.61719387T>C , CM000673.1:g.61719387T>C	GRCh37
NC_000011.8:g.61475963T>C	NCBI36
NG_009033.1:g.7032T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.109T>C MANE Select	ENSP00000367282.4:p.Leu37=
ENST00000378043.8:c.109T>C	ENSP00000367282.4:p.Leu37=
ENST00000449131.6:c.-29+1488T>C	ENSP00000399709.2:n.-29+1488T>C
ENST00000524877.5:n.68+1488T>C
ENST00000524926.5:c.109T>C	ENSP00000432681.1:p.Leu37=
ENST00000529265.5:n.75+1488T>C
ENST00000533521.5:n.217T>C
ENST00000534553.5:c.-212+1488T>C	ENSP00000431189.1:n.-212+1488T>C
NM_001139443.1:c.-29+1488T>C	NP_001132915.1:n.-29+1488T>C
NM_001300786.1:c.-29+1488T>C	NP_001287715.1:n.-29+1488T>C
NM_001300787.1:c.-29+1488T>C	NP_001287716.1:n.-29+1488T>C
NM_004183.3:c.109T>C	NP_004174.1:p.Leu37=
XM_005274210.2:c.109T>C	XP_005274267.1:p.Leu37=
XM_005274216.2:c.-29+1488T>C	XP_005274273.1:n.-29+1488T>C
XM_005274218.3:c.-212+1488T>C	XP_005274275.1:n.-212+1488T>C
XM_005274219.2:c.109T>C	XP_005274276.1:p.Leu37=
XM_005274221.2:c.109T>C	XP_005274278.1:p.Leu37=
XM_011545229.1:c.109T>C	XP_011543531.1:p.Leu37=
XM_011545230.1:c.60-3192T>C	XP_011543532.1:n.60-3192T>C
XM_011545231.1:c.-212+1488T>C	XP_011543533.1:n.-212+1488T>C
XM_011545232.1:c.109T>C	XP_011543534.1:p.Leu37=
NM_001363592.1:c.109T>C	NP_001350521.1:p.Leu37=
NR_134580.1:n.689T>C
XM_005274210.4:c.109T>C	XP_005274267.1:p.Leu37=
XM_005274216.4:c.-29+1488T>C	XP_005274273.1:n.-29+1488T>C
XM_005274219.4:c.109T>C	XP_005274276.1:p.Leu37=
XM_005274221.4:c.109T>C	XP_005274278.1:p.Leu37=
XM_011545229.3:c.109T>C	XP_011543531.1:p.Leu37=
XM_011545230.3:c.60-3192T>C	XP_011543532.1:n.60-3192T>C
XR_001747952.2:n.650+1488T>C
XR_001747953.2:n.799T>C
XR_001747954.2:n.799T>C
NM_004183.4:c.109T>C MANE Select	NP_004174.1:p.Leu37=
NM_001139443.2:c.-29+1488T>C	NP_001132915.1:n.-29+1488T>C
NM_001300786.2:c.-29+1488T>C	NP_001287715.1:n.-29+1488T>C
NM_001300787.2:c.-29+1488T>C	NP_001287716.1:n.-29+1488T>C
NR_134580.2:n.222T>C