Canonical Allele Identifier: CA222930173

Gene: BEST1

Linked Data

• dbSNP Id: rs973081206
• gnomAD v4: 11-61950442-C-T
• MyVariant Identifiers: chr11:g.61717914C>T (hg19) ; chr11:g.61950442C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61950442C>T , CM000673.2:g.61950442C>T	GRCh38
NC_000011.9:g.61717914C>T , CM000673.1:g.61717914C>T	GRCh37
NC_000011.8:g.61474490C>T	NCBI36
NG_009033.1:g.5559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.-37+15C>T MANE Select	ENSP00000367282.4:n.-37+15C>T
ENST00000378043.8:c.-37+15C>T	ENSP00000367282.4:n.-37+15C>T
ENST00000449131.6:c.-29+15C>T	ENSP00000399709.2:n.-29+15C>T
ENST00000524877.5:n.68+15C>T
ENST00000524926.5:c.-37+15C>T	ENSP00000432681.1:n.-37+15C>T
ENST00000529265.5:n.75+15C>T
ENST00000533521.5:n.72+15C>T
ENST00000534553.5:c.-212+15C>T	ENSP00000431189.1:n.-212+15C>T
NM_001139443.1:c.-29+15C>T	NP_001132915.1:n.-29+15C>T
NM_001300786.1:c.-29+15C>T	NP_001287715.1:n.-29+15C>T
NM_001300787.1:c.-29+15C>T	NP_001287716.1:n.-29+15C>T
NM_004183.3:c.-37+15C>T	NP_004174.1:n.-37+15C>T
XM_005274210.2:c.-37+15C>T	XP_005274267.1:n.-37+15C>T
XM_005274216.2:c.-29+15C>T	XP_005274273.1:n.-29+15C>T
XM_005274218.3:c.-212+15C>T	XP_005274275.1:n.-212+15C>T
XM_005274219.2:c.-37+15C>T	XP_005274276.1:n.-37+15C>T
XM_005274221.2:c.-37+15C>T	XP_005274278.1:n.-37+15C>T
XM_011545229.1:c.-36-1329C>T	XP_011543531.1:n.-36-1329C>T
XM_011545230.1:c.59+3627C>T	XP_011543532.1:n.59+3627C>T
XM_011545231.1:c.-212+15C>T	XP_011543533.1:n.-212+15C>T
XM_011545232.1:c.-37+15C>T	XP_011543534.1:n.-37+15C>T
NM_001363592.1:c.-37+15C>T	NP_001350521.1:n.-37+15C>T
NR_134580.1:n.544+15C>T
XM_005274210.4:c.-37+15C>T	XP_005274267.1:n.-37+15C>T
XM_005274216.4:c.-29+15C>T	XP_005274273.1:n.-29+15C>T
XM_005274219.4:c.-37+15C>T	XP_005274276.1:n.-37+15C>T
XM_005274221.4:c.-37+15C>T	XP_005274278.1:n.-37+15C>T
XM_011545229.3:c.-36-1329C>T	XP_011543531.1:n.-36-1329C>T
XM_011545230.3:c.59+3627C>T	XP_011543532.1:n.59+3627C>T
XR_001747952.2:n.650+15C>T
XR_001747953.2:n.654+15C>T
XR_001747954.2:n.654+15C>T
NM_004183.4:c.-37+15C>T MANE Select	NP_004174.1:n.-37+15C>T
NM_001139443.2:c.-29+15C>T	NP_001132915.1:n.-29+15C>T
NM_001300786.2:c.-29+15C>T	NP_001287715.1:n.-29+15C>T
NM_001300787.2:c.-29+15C>T	NP_001287716.1:n.-29+15C>T
NR_134580.2:n.77+15C>T