Canonical Allele Identifier: CA380834490

Gene: BEST1

Linked Data

• dbSNP Id: rs1445469923
• gnomAD v2: 11-61723281-C-G
• gnomAD v4: 11-61955809-C-G
• MyVariant Identifiers: chr11:g.61723281C>G (hg19) ; chr11:g.61955809C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955809C>G , CM000673.2:g.61955809C>G	GRCh38
NC_000011.9:g.61723281C>G , CM000673.1:g.61723281C>G	GRCh37
NC_000011.8:g.61479857C>G	NCBI36
NG_009033.1:g.10926C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.339C>G MANE Select	ENSP00000367282.4:p.Phe113Leu
ENST00000378043.8:c.339C>G	ENSP00000367282.4:p.Phe113Leu
ENST00000449131.6:c.159C>G	ENSP00000399709.2:p.Phe53Leu
ENST00000524877.5:n.771C>G
ENST00000524926.5:c.339C>G	ENSP00000432681.1:p.Phe113Leu
ENST00000526988.1:c.21C>G	ENSP00000433195.1:p.Phe7Leu
ENST00000529265.5:n.262C>G
ENST00000533521.5:n.963C>G
ENST00000534553.5:c.21C>G	ENSP00000431189.1:p.Phe7Leu
NM_001139443.1:c.159C>G	NP_001132915.1:p.Phe53Leu
NM_001300786.1:c.159C>G	NP_001287715.1:p.Phe53Leu
NM_001300787.1:c.159C>G	NP_001287716.1:p.Phe53Leu
NM_004183.3:c.339C>G	NP_004174.1:p.Phe113Leu
XM_005274210.2:c.339C>G	XP_005274267.1:p.Phe113Leu
XM_005274215.2:c.21C>G	XP_005274272.1:p.Phe7Leu
XM_005274216.2:c.159C>G	XP_005274273.1:p.Phe53Leu
XM_005274218.3:c.21C>G	XP_005274275.1:p.Phe7Leu
XM_005274219.2:c.339C>G	XP_005274276.1:p.Phe113Leu
XM_005274221.2:c.339C>G	XP_005274278.1:p.Phe113Leu
XM_011545229.1:c.339C>G	XP_011543531.1:p.Phe113Leu
XM_011545230.1:c.246C>G	XP_011543532.1:p.Phe82Leu
XM_011545231.1:c.21C>G	XP_011543533.1:p.Phe7Leu
XM_011545232.1:c.339C>G	XP_011543534.1:p.Phe113Leu
NM_001363591.1:c.21C>G	NP_001350520.1:p.Phe7Leu
NM_001363592.1:c.339C>G	NP_001350521.1:p.Phe113Leu
NM_001363593.1:c.-837C>G	NP_001350522.1:n.-837C>G
NR_134580.1:n.919C>G
XM_005274210.4:c.339C>G	XP_005274267.1:p.Phe113Leu
XM_005274215.4:c.21C>G	XP_005274272.1:p.Phe7Leu
XM_005274216.4:c.159C>G	XP_005274273.1:p.Phe53Leu
XM_005274219.4:c.339C>G	XP_005274276.1:p.Phe113Leu
XM_005274221.4:c.339C>G	XP_005274278.1:p.Phe113Leu
XM_011545229.3:c.339C>G	XP_011543531.1:p.Phe113Leu
XM_011545230.3:c.246C>G	XP_011543532.1:p.Phe82Leu
XM_017018230.2:c.21C>G	XP_016873719.1:p.Phe7Leu
XR_001747952.2:n.837C>G
XR_001747953.2:n.1029C>G
XR_001747954.2:n.1029C>G
XR_002957249.1:n.1929G>C
NM_004183.4:c.339C>G MANE Select	NP_004174.1:p.Phe113Leu
NM_001139443.2:c.159C>G	NP_001132915.1:p.Phe53Leu
NM_001300786.2:c.159C>G	NP_001287715.1:p.Phe53Leu
NM_001300787.2:c.159C>G	NP_001287716.1:p.Phe53Leu
NM_001363591.2:c.21C>G	NP_001350520.1:p.Phe7Leu
NM_001363593.2:c.-837C>G	NP_001350522.1:n.-837C>G
NR_134580.2:n.452C>G