Canonical Allele Identifier: CA380838970

Gene: BEST1

Linked Data

• gnomAD v4: 11-61957463-A-T
• MyVariant Identifiers: chr11:g.61724935A>T (hg19) ; chr11:g.61957463A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61957463A>T , CM000673.2:g.61957463A>T	GRCh38
NC_000011.9:g.61724935A>T , CM000673.1:g.61724935A>T	GRCh37
NC_000011.8:g.61481511A>T	NCBI36
NG_009033.1:g.12580A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.713A>T MANE Select	ENSP00000367282.4:p.Gln238Leu
ENST00000378043.8:c.713A>T	ENSP00000367282.4:p.Gln238Leu
ENST00000449131.6:c.533A>T	ENSP00000399709.2:p.Gln178Leu
ENST00000524877.5:n.1145A>T
ENST00000524926.5:c.713A>T	ENSP00000432681.1:p.Gln238Leu
ENST00000526988.1:c.395A>T	ENSP00000433195.1:p.Gln132Leu
ENST00000529265.5:n.636A>T
ENST00000534553.5:c.163+1512A>T	ENSP00000431189.1:n.163+1512A>T
NM_001139443.1:c.533A>T	NP_001132915.1:p.Gln178Leu
NM_001300786.1:c.533A>T	NP_001287715.1:p.Gln178Leu
NM_001300787.1:c.533A>T	NP_001287716.1:p.Gln178Leu
NM_004183.3:c.713A>T	NP_004174.1:p.Gln238Leu
XM_005274210.2:c.713A>T	XP_005274267.1:p.Gln238Leu
XM_005274215.2:c.395A>T	XP_005274272.1:p.Gln132Leu
XM_005274216.2:c.533A>T	XP_005274273.1:p.Gln178Leu
XM_005274218.3:c.395A>T	XP_005274275.1:p.Gln132Leu
XM_005274219.2:c.713A>T	XP_005274276.1:p.Gln238Leu
XM_005274221.2:c.713A>T	XP_005274278.1:p.Gln238Leu
XM_011545229.1:c.713A>T	XP_011543531.1:p.Gln238Leu
XM_011545230.1:c.620A>T	XP_011543532.1:p.Gln207Leu
XM_011545231.1:c.395A>T	XP_011543533.1:p.Gln132Leu
XM_011545232.1:c.713A>T	XP_011543534.1:p.Gln238Leu
NM_001363591.1:c.395A>T	NP_001350520.1:p.Gln132Leu
NM_001363592.1:c.713A>T	NP_001350521.1:p.Gln238Leu
NM_001363593.1:c.-463A>T	NP_001350522.1:n.-463A>T
NR_134580.1:n.1293A>T
XM_005274210.4:c.713A>T	XP_005274267.1:p.Gln238Leu
XM_005274215.4:c.395A>T	XP_005274272.1:p.Gln132Leu
XM_005274216.4:c.533A>T	XP_005274273.1:p.Gln178Leu
XM_005274219.4:c.713A>T	XP_005274276.1:p.Gln238Leu
XM_005274221.4:c.713A>T	XP_005274278.1:p.Gln238Leu
XM_011545229.3:c.713A>T	XP_011543531.1:p.Gln238Leu
XM_011545230.3:c.620A>T	XP_011543532.1:p.Gln207Leu
XM_017018230.2:c.395A>T	XP_016873719.1:p.Gln132Leu
XR_001747952.2:n.1211A>T
XR_001747953.2:n.1403A>T
XR_001747954.2:n.1403A>T
XR_001748245.1:n.1266T>A
XR_002957249.1:n.506-231T>A
NM_004183.4:c.713A>T MANE Select	NP_004174.1:p.Gln238Leu
NM_001139443.2:c.533A>T	NP_001132915.1:p.Gln178Leu
NM_001300786.2:c.533A>T	NP_001287715.1:p.Gln178Leu
NM_001300787.2:c.533A>T	NP_001287716.1:p.Gln178Leu
NM_001363591.2:c.395A>T	NP_001350520.1:p.Gln132Leu
NM_001363593.2:c.-463A>T	NP_001350522.1:n.-463A>T
NR_134580.2:n.826A>T