Canonical Allele Identifier: CA380834501

Gene: BEST1

Linked Data

• gnomAD v4: 11-61955810-G-T
• MyVariant Identifiers: chr11:g.61723282G>T (hg19) ; chr11:g.61955810G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955810G>T , CM000673.2:g.61955810G>T	GRCh38
NC_000011.9:g.61723282G>T , CM000673.1:g.61723282G>T	GRCh37
NC_000011.8:g.61479858G>T	NCBI36
NG_009033.1:g.10927G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.340G>T MANE Select	ENSP00000367282.4:p.Val114Phe
ENST00000378043.8:c.340G>T	ENSP00000367282.4:p.Val114Phe
ENST00000449131.6:c.160G>T	ENSP00000399709.2:p.Val54Phe
ENST00000524877.5:n.772G>T
ENST00000524926.5:c.340G>T	ENSP00000432681.1:p.Val114Phe
ENST00000526988.1:c.22G>T	ENSP00000433195.1:p.Val8Phe
ENST00000529265.5:n.263G>T
ENST00000533521.5:n.964G>T
ENST00000534553.5:c.22G>T	ENSP00000431189.1:p.Val8Phe
NM_001139443.1:c.160G>T	NP_001132915.1:p.Val54Phe
NM_001300786.1:c.160G>T	NP_001287715.1:p.Val54Phe
NM_001300787.1:c.160G>T	NP_001287716.1:p.Val54Phe
NM_004183.3:c.340G>T	NP_004174.1:p.Val114Phe
XM_005274210.2:c.340G>T	XP_005274267.1:p.Val114Phe
XM_005274215.2:c.22G>T	XP_005274272.1:p.Val8Phe
XM_005274216.2:c.160G>T	XP_005274273.1:p.Val54Phe
XM_005274218.3:c.22G>T	XP_005274275.1:p.Val8Phe
XM_005274219.2:c.340G>T	XP_005274276.1:p.Val114Phe
XM_005274221.2:c.340G>T	XP_005274278.1:p.Val114Phe
XM_011545229.1:c.340G>T	XP_011543531.1:p.Val114Phe
XM_011545230.1:c.247G>T	XP_011543532.1:p.Val83Phe
XM_011545231.1:c.22G>T	XP_011543533.1:p.Val8Phe
XM_011545232.1:c.340G>T	XP_011543534.1:p.Val114Phe
NM_001363591.1:c.22G>T	NP_001350520.1:p.Val8Phe
NM_001363592.1:c.340G>T	NP_001350521.1:p.Val114Phe
NM_001363593.1:c.-836G>T	NP_001350522.1:n.-836G>T
NR_134580.1:n.920G>T
XM_005274210.4:c.340G>T	XP_005274267.1:p.Val114Phe
XM_005274215.4:c.22G>T	XP_005274272.1:p.Val8Phe
XM_005274216.4:c.160G>T	XP_005274273.1:p.Val54Phe
XM_005274219.4:c.340G>T	XP_005274276.1:p.Val114Phe
XM_005274221.4:c.340G>T	XP_005274278.1:p.Val114Phe
XM_011545229.3:c.340G>T	XP_011543531.1:p.Val114Phe
XM_011545230.3:c.247G>T	XP_011543532.1:p.Val83Phe
XM_017018230.2:c.22G>T	XP_016873719.1:p.Val8Phe
XR_001747952.2:n.838G>T
XR_001747953.2:n.1030G>T
XR_001747954.2:n.1030G>T
XR_002957249.1:n.1928C>A
NM_004183.4:c.340G>T MANE Select	NP_004174.1:p.Val114Phe
NM_001139443.2:c.160G>T	NP_001132915.1:p.Val54Phe
NM_001300786.2:c.160G>T	NP_001287715.1:p.Val54Phe
NM_001300787.2:c.160G>T	NP_001287716.1:p.Val54Phe
NM_001363591.2:c.22G>T	NP_001350520.1:p.Val8Phe
NM_001363593.2:c.-836G>T	NP_001350522.1:n.-836G>T
NR_134580.2:n.453G>T