Canonical Allele Identifier: CA380831709
Community Standard Title: NM_004183.4(BEST1):c.95T>C (p.Leu32Pro)
Gene: BEST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61951901T>C , CM000673.2:g.61951901T>C GRCh38
NC_000011.9:g.61719373T>C , CM000673.1:g.61719373T>C GRCh37
NC_000011.8:g.61475949T>C NCBI36
NG_009033.1:g.7018T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004183.4:c.95T>C MANE Select NP_004174.1:p.Leu32Pro
ENST00000378043.9:c.95T>C MANE Select ENSP00000367282.4:p.Leu32Pro
NM_001139443.1:c.-29+1474T>C NP_001132915.1:n.-29+1474T>C
NM_001139443.2:c.-29+1474T>C NP_001132915.1:n.-29+1474T>C
NM_001300786.1:c.-29+1474T>C NP_001287715.1:n.-29+1474T>C
NM_001300786.2:c.-29+1474T>C NP_001287715.1:n.-29+1474T>C
NM_001300787.1:c.-29+1474T>C NP_001287716.1:n.-29+1474T>C
NM_001300787.2:c.-29+1474T>C NP_001287716.1:n.-29+1474T>C
NM_001363592.1:c.95T>C NP_001350521.1:p.Leu32Pro
NM_004183.3:c.95T>C NP_004174.1:p.Leu32Pro
NR_134580.1:n.675T>C
NR_134580.2:n.208T>C
ENST00000378043.8:c.95T>C ENSP00000367282.4:p.Leu32Pro
ENST00000449131.6:c.-29+1474T>C ENSP00000399709.2:n.-29+1474T>C
ENST00000524877.5:n.68+1474T>C
ENST00000524926.5:c.95T>C ENSP00000432681.1:p.Leu32Pro
ENST00000529265.5:n.75+1474T>C
ENST00000533521.5:n.203T>C
ENST00000534553.5:c.-212+1474T>C ENSP00000431189.1:n.-212+1474T>C
XM_005274210.2:c.95T>C XP_005274267.1:p.Leu32Pro
XM_005274210.4:c.95T>C XP_005274267.1:p.Leu32Pro
XM_005274216.2:c.-29+1474T>C XP_005274273.1:n.-29+1474T>C
XM_005274216.4:c.-29+1474T>C XP_005274273.1:n.-29+1474T>C
XM_005274218.3:c.-212+1474T>C XP_005274275.1:n.-212+1474T>C
XM_005274219.2:c.95T>C XP_005274276.1:p.Leu32Pro
XM_005274219.4:c.95T>C XP_005274276.1:p.Leu32Pro
XM_005274221.2:c.95T>C XP_005274278.1:p.Leu32Pro
XM_005274221.4:c.95T>C XP_005274278.1:p.Leu32Pro
XM_011545229.1:c.95T>C XP_011543531.1:p.Leu32Pro
XM_011545229.3:c.95T>C XP_011543531.1:p.Leu32Pro
XM_011545230.1:c.60-3206T>C XP_011543532.1:n.60-3206T>C
XM_011545230.3:c.60-3206T>C XP_011543532.1:n.60-3206T>C
XM_011545231.1:c.-212+1474T>C XP_011543533.1:n.-212+1474T>C
XM_011545232.1:c.95T>C XP_011543534.1:p.Leu32Pro
XR_001747952.2:n.650+1474T>C
XR_001747953.2:n.785T>C
XR_001747954.2:n.785T>C