Canonical Allele Identifier: CA227736

Gene: BEST1

Linked Data

• ClinVar Variation Id: 2732
• ClinVar RCV Id: RCV000002851 ; RCV000086095
• dbSNP Id: rs28940275
• MyVariant Identifiers: chr11:g.61719294A>C (hg19) ; chr11:g.61951822A>C (hg38)
• PubMed: PMID:9662395 ; PMID:10854112 ; PMID:17698758

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61951822A>C , CM000673.2:g.61951822A>C	GRCh38
NC_000011.9:g.61719294A>C , CM000673.1:g.61719294A>C	GRCh37
NC_000011.8:g.61475870A>C	NCBI36
NG_009033.1:g.6939A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.16A>C MANE Select	ENSP00000367282.4:p.Thr6Pro
ENST00000378043.8:c.16A>C	ENSP00000367282.4:p.Thr6Pro
ENST00000449131.6:c.-29+1395A>C	ENSP00000399709.2:n.-29+1395A>C
ENST00000524877.5:n.68+1395A>C
ENST00000524926.5:c.16A>C	ENSP00000432681.1:p.Thr6Pro
ENST00000529265.5:n.75+1395A>C
ENST00000533521.5:n.124A>C
ENST00000534553.5:c.-212+1395A>C	ENSP00000431189.1:n.-212+1395A>C
NM_001139443.1:c.-29+1395A>C	NP_001132915.1:n.-29+1395A>C
NM_001300786.1:c.-29+1395A>C	NP_001287715.1:n.-29+1395A>C
NM_001300787.1:c.-29+1395A>C	NP_001287716.1:n.-29+1395A>C
NM_004183.3:c.16A>C	NP_004174.1:p.Thr6Pro
XM_005274210.2:c.16A>C	XP_005274267.1:p.Thr6Pro
XM_005274216.2:c.-29+1395A>C	XP_005274273.1:n.-29+1395A>C
XM_005274218.3:c.-212+1395A>C	XP_005274275.1:n.-212+1395A>C
XM_005274219.2:c.16A>C	XP_005274276.1:p.Thr6Pro
XM_005274221.2:c.16A>C	XP_005274278.1:p.Thr6Pro
XM_011545229.1:c.16A>C	XP_011543531.1:p.Thr6Pro
XM_011545230.1:c.60-3285A>C	XP_011543532.1:n.60-3285A>C
XM_011545231.1:c.-212+1395A>C	XP_011543533.1:n.-212+1395A>C
XM_011545232.1:c.16A>C	XP_011543534.1:p.Thr6Pro
NM_001363592.1:c.16A>C	NP_001350521.1:p.Thr6Pro
NR_134580.1:n.596A>C
XM_005274210.4:c.16A>C	XP_005274267.1:p.Thr6Pro
XM_005274216.4:c.-29+1395A>C	XP_005274273.1:n.-29+1395A>C
XM_005274219.4:c.16A>C	XP_005274276.1:p.Thr6Pro
XM_005274221.4:c.16A>C	XP_005274278.1:p.Thr6Pro
XM_011545229.3:c.16A>C	XP_011543531.1:p.Thr6Pro
XM_011545230.3:c.60-3285A>C	XP_011543532.1:n.60-3285A>C
XR_001747952.2:n.650+1395A>C
XR_001747953.2:n.706A>C
XR_001747954.2:n.706A>C
NM_004183.4:c.16A>C MANE Select	NP_004174.1:p.Thr6Pro
NM_001139443.2:c.-29+1395A>C	NP_001132915.1:n.-29+1395A>C
NM_001300786.2:c.-29+1395A>C	NP_001287715.1:n.-29+1395A>C
NM_001300787.2:c.-29+1395A>C	NP_001287716.1:n.-29+1395A>C
NR_134580.2:n.129A>C