Canonical Allele Identifier: CA2613918873

Gene: BEST1

Linked Data

• gnomAD v4: 11-61950248-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61950248C>A , CM000673.2:g.61950248C>A	GRCh38
NC_000011.9:g.61717720C>A , CM000673.1:g.61717720C>A	GRCh37
NC_000011.8:g.61474296C>A	NCBI36
NG_009033.1:g.5365C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.8:c.-216C>A	ENSP00000367282.4:n.-216C>A
ENST00000534553.5:c.-391C>A	ENSP00000431189.1:n.-391C>A
NM_001139443.1:c.-208C>A	NP_001132915.1:n.-208C>A
NM_001300786.1:c.-208C>A	NP_001287715.1:n.-208C>A
NM_001300787.1:c.-208C>A	NP_001287716.1:n.-208C>A
NM_004183.3:c.-216C>A	NP_004174.1:n.-216C>A
XM_005274210.2:c.-216C>A	XP_005274267.1:n.-216C>A
XM_005274216.2:c.-208C>A	XP_005274273.1:n.-208C>A
XM_005274218.3:c.-391C>A	XP_005274275.1:n.-391C>A
XM_005274219.2:c.-216C>A	XP_005274276.1:n.-216C>A
XM_005274221.2:c.-216C>A	XP_005274278.1:n.-216C>A
XM_011545229.1:c.-36-1523C>A	XP_011543531.1:n.-36-1523C>A
XM_011545230.1:c.59+3433C>A	XP_011543532.1:n.59+3433C>A
XM_011545231.1:c.-391C>A	XP_011543533.1:n.-391C>A
XM_011545232.1:c.-216C>A	XP_011543534.1:n.-216C>A
NM_001363592.1:c.-216C>A	NP_001350521.1:n.-216C>A
NR_134580.1:n.365C>A
XM_005274210.4:c.-216C>A	XP_005274267.1:n.-216C>A
XM_005274216.4:c.-208C>A	XP_005274273.1:n.-208C>A
XM_005274219.4:c.-216C>A	XP_005274276.1:n.-216C>A
XM_005274221.4:c.-216C>A	XP_005274278.1:n.-216C>A
XM_011545229.3:c.-36-1523C>A	XP_011543531.1:n.-36-1523C>A
XM_011545230.3:c.59+3433C>A	XP_011543532.1:n.59+3433C>A
XR_001747952.2:n.471C>A
XR_001747953.2:n.475C>A
XR_001747954.2:n.475C>A