Canonical Allele Identifier: CA938617181
Gene: BEST1 HGNC NCBI

Linked Data

dbSNP Id: rs1940520026

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61950406G>A , CM000673.2:g.61950406G>A GRCh38
NC_000011.9:g.61717878G>A , CM000673.1:g.61717878G>A GRCh37
NC_000011.8:g.61474454G>A NCBI36
NG_009033.1:g.5523G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.-58G>A MANE Select ENSP00000367282.4:n.-58G>A
ENST00000378043.8:c.-58G>A ENSP00000367282.4:n.-58G>A
ENST00000449131.6:c.-50G>A ENSP00000399709.2:n.-50G>A
ENST00000524877.5:n.47G>A
ENST00000524926.5:c.-58G>A ENSP00000432681.1:n.-58G>A
ENST00000529265.5:n.54G>A
ENST00000533521.5:n.51G>A
ENST00000534553.5:c.-233G>A ENSP00000431189.1:n.-233G>A
NM_001139443.1:c.-50G>A NP_001132915.1:n.-50G>A
NM_001300786.1:c.-50G>A NP_001287715.1:n.-50G>A
NM_001300787.1:c.-50G>A NP_001287716.1:n.-50G>A
NM_004183.3:c.-58G>A NP_004174.1:n.-58G>A
XM_005274210.2:c.-58G>A XP_005274267.1:n.-58G>A
XM_005274216.2:c.-50G>A XP_005274273.1:n.-50G>A
XM_005274218.3:c.-233G>A XP_005274275.1:n.-233G>A
XM_005274219.2:c.-58G>A XP_005274276.1:n.-58G>A
XM_005274221.2:c.-58G>A XP_005274278.1:n.-58G>A
XM_011545229.1:c.-36-1365G>A XP_011543531.1:n.-36-1365G>A
XM_011545230.1:c.59+3591G>A XP_011543532.1:n.59+3591G>A
XM_011545231.1:c.-233G>A XP_011543533.1:n.-233G>A
XM_011545232.1:c.-58G>A XP_011543534.1:n.-58G>A
NM_001363592.1:c.-58G>A NP_001350521.1:n.-58G>A
NR_134580.1:n.523G>A
XM_005274210.4:c.-58G>A XP_005274267.1:n.-58G>A
XM_005274216.4:c.-50G>A XP_005274273.1:n.-50G>A
XM_005274219.4:c.-58G>A XP_005274276.1:n.-58G>A
XM_005274221.4:c.-58G>A XP_005274278.1:n.-58G>A
XM_011545229.3:c.-36-1365G>A XP_011543531.1:n.-36-1365G>A
XM_011545230.3:c.59+3591G>A XP_011543532.1:n.59+3591G>A
XR_001747952.2:n.629G>A
XR_001747953.2:n.633G>A
XR_001747954.2:n.633G>A
NM_004183.4:c.-58G>A MANE Select NP_004174.1:n.-58G>A
NM_001139443.2:c.-50G>A NP_001132915.1:n.-50G>A
NM_001300786.2:c.-50G>A NP_001287715.1:n.-50G>A
NM_001300787.2:c.-50G>A NP_001287716.1:n.-50G>A
NR_134580.2:n.56G>A