Canonical Allele Identifier: CA380839360

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61725622T>C (hg19) ; chr11:g.61958150T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958150T>C , CM000673.2:g.61958150T>C	GRCh38
NC_000011.9:g.61725622T>C , CM000673.1:g.61725622T>C	GRCh37
NC_000011.8:g.61482198T>C	NCBI36
NG_009033.1:g.13267T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.719T>C MANE Select	ENSP00000367282.4:p.Val240Ala
ENST00000378043.8:c.719T>C	ENSP00000367282.4:p.Val240Ala
ENST00000449131.6:c.539T>C	ENSP00000399709.2:p.Val180Ala
ENST00000524877.5:n.1151T>C
ENST00000524926.5:c.719T>C	ENSP00000432681.1:p.Val240Ala
ENST00000526988.1:c.401T>C	ENSP00000433195.1:p.Val134Ala
ENST00000529265.5:n.642T>C
ENST00000534553.5:c.163+2199T>C	ENSP00000431189.1:n.163+2199T>C
NM_001139443.1:c.539T>C	NP_001132915.1:p.Val180Ala
NM_001300786.1:c.539T>C	NP_001287715.1:p.Val180Ala
NM_001300787.1:c.539T>C	NP_001287716.1:p.Val180Ala
NM_004183.3:c.719T>C	NP_004174.1:p.Val240Ala
XM_005274210.2:c.719T>C	XP_005274267.1:p.Val240Ala
XM_005274215.2:c.401T>C	XP_005274272.1:p.Val134Ala
XM_005274216.2:c.539T>C	XP_005274273.1:p.Val180Ala
XM_005274218.3:c.401T>C	XP_005274275.1:p.Val134Ala
XM_005274219.2:c.719T>C	XP_005274276.1:p.Val240Ala
XM_005274221.2:c.714+686T>C	XP_005274278.1:n.714+686T>C
XM_011545229.1:c.719T>C	XP_011543531.1:p.Val240Ala
XM_011545230.1:c.626T>C	XP_011543532.1:p.Val209Ala
XM_011545231.1:c.401T>C	XP_011543533.1:p.Val134Ala
XM_011545232.1:c.719T>C	XP_011543534.1:p.Val240Ala
NM_001363591.1:c.401T>C	NP_001350520.1:p.Val134Ala
NM_001363592.1:c.719T>C	NP_001350521.1:p.Val240Ala
NM_001363593.1:c.-457T>C	NP_001350522.1:n.-457T>C
NR_134580.1:n.1299T>C
XM_005274210.4:c.719T>C	XP_005274267.1:p.Val240Ala
XM_005274215.4:c.401T>C	XP_005274272.1:p.Val134Ala
XM_005274216.4:c.539T>C	XP_005274273.1:p.Val180Ala
XM_005274219.4:c.719T>C	XP_005274276.1:p.Val240Ala
XM_005274221.4:c.714+686T>C	XP_005274278.1:n.714+686T>C
XM_011545229.3:c.719T>C	XP_011543531.1:p.Val240Ala
XM_011545230.3:c.626T>C	XP_011543532.1:p.Val209Ala
XM_017018230.2:c.401T>C	XP_016873719.1:p.Val134Ala
XR_001747952.2:n.1217T>C
XR_001747953.2:n.1409T>C
XR_001747954.2:n.1404+686T>C
XR_001748245.1:n.579A>G
XR_002957249.1:n.505+74A>G
NM_004183.4:c.719T>C MANE Select	NP_004174.1:p.Val240Ala
NM_001139443.2:c.539T>C	NP_001132915.1:p.Val180Ala
NM_001300786.2:c.539T>C	NP_001287715.1:p.Val180Ala
NM_001300787.2:c.539T>C	NP_001287716.1:p.Val180Ala
NM_001363591.2:c.401T>C	NP_001350520.1:p.Val134Ala
NM_001363593.2:c.-457T>C	NP_001350522.1:n.-457T>C
NR_134580.2:n.832T>C