Canonical Allele Identifier: CA2613919040

Gene: BEST1

Linked Data

• gnomAD v4: 11-61950292-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61950292G>T , CM000673.2:g.61950292G>T	GRCh38
NC_000011.9:g.61717764G>T , CM000673.1:g.61717764G>T	GRCh37
NC_000011.8:g.61474340G>T	NCBI36
NG_009033.1:g.5409G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.8:c.-172G>T	ENSP00000367282.4:n.-172G>T
ENST00000534553.5:c.-347G>T	ENSP00000431189.1:n.-347G>T
NM_001139443.1:c.-164G>T	NP_001132915.1:n.-164G>T
NM_001300786.1:c.-164G>T	NP_001287715.1:n.-164G>T
NM_001300787.1:c.-164G>T	NP_001287716.1:n.-164G>T
NM_004183.3:c.-172G>T	NP_004174.1:n.-172G>T
XM_005274210.2:c.-172G>T	XP_005274267.1:n.-172G>T
XM_005274216.2:c.-164G>T	XP_005274273.1:n.-164G>T
XM_005274218.3:c.-347G>T	XP_005274275.1:n.-347G>T
XM_005274219.2:c.-172G>T	XP_005274276.1:n.-172G>T
XM_005274221.2:c.-172G>T	XP_005274278.1:n.-172G>T
XM_011545229.1:c.-36-1479G>T	XP_011543531.1:n.-36-1479G>T
XM_011545230.1:c.59+3477G>T	XP_011543532.1:n.59+3477G>T
XM_011545231.1:c.-347G>T	XP_011543533.1:n.-347G>T
XM_011545232.1:c.-172G>T	XP_011543534.1:n.-172G>T
NM_001363592.1:c.-172G>T	NP_001350521.1:n.-172G>T
NR_134580.1:n.409G>T
XM_005274210.4:c.-172G>T	XP_005274267.1:n.-172G>T
XM_005274216.4:c.-164G>T	XP_005274273.1:n.-164G>T
XM_005274219.4:c.-172G>T	XP_005274276.1:n.-172G>T
XM_005274221.4:c.-172G>T	XP_005274278.1:n.-172G>T
XM_011545229.3:c.-36-1479G>T	XP_011543531.1:n.-36-1479G>T
XM_011545230.3:c.59+3477G>T	XP_011543532.1:n.59+3477G>T
XR_001747952.2:n.515G>T
XR_001747953.2:n.519G>T
XR_001747954.2:n.519G>T