Canonical Allele Identifier: CA380843896

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61727008T>C (hg19) ; chr11:g.61959536T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959536T>C , CM000673.2:g.61959536T>C	GRCh38
NC_000011.9:g.61727008T>C , CM000673.1:g.61727008T>C	GRCh37
NC_000011.8:g.61483584T>C	NCBI36
NG_009033.1:g.14653T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.906T>C MANE Select	ENSP00000367282.4:p.Asp302=
ENST00000378043.8:c.906T>C	ENSP00000367282.4:p.Asp302=
ENST00000449131.6:c.726T>C	ENSP00000399709.2:p.Asp242=
ENST00000524877.5:n.2537T>C
ENST00000524926.5:c.1109T>C	ENSP00000432681.1:p.Met370Thr
ENST00000526988.1:c.791T>C	ENSP00000433195.1:p.Met264Thr
ENST00000534553.5:c.164-2719T>C	ENSP00000431189.1:n.164-2719T>C
NM_001139443.1:c.726T>C	NP_001132915.1:p.Asp242=
NM_001300786.1:c.688-356T>C	NP_001287715.1:n.688-356T>C
NM_001300787.1:c.726T>C	NP_001287716.1:p.Asp242=
NM_004183.3:c.906T>C	NP_004174.1:p.Asp302=
XM_005274210.2:c.906T>C	XP_005274267.1:p.Asp302=
XM_005274215.2:c.588T>C	XP_005274272.1:p.Asp196=
XM_005274216.2:c.929T>C	XP_005274273.1:p.Met310Thr
XM_005274218.3:c.791T>C	XP_005274275.1:p.Met264Thr
XM_005274219.2:c.867+1238T>C	XP_005274276.1:n.867+1238T>C
XM_005274221.2:c.714+2072T>C	XP_005274278.1:n.714+2072T>C
XM_011545229.1:c.906T>C	XP_011543531.1:p.Asp302=
XM_011545230.1:c.813T>C	XP_011543532.1:p.Asp271=
XM_011545231.1:c.588T>C	XP_011543533.1:p.Asp196=
XM_011545232.1:c.1109T>C	XP_011543534.1:p.Met370Thr
XM_011545233.1:c.63T>C	XP_011543535.1:p.Asp21=
NM_001363591.1:c.588T>C	NP_001350520.1:p.Asp196=
NM_001363592.1:c.1109T>C	NP_001350521.1:p.Met370Thr
NM_001363593.1:c.-67T>C	NP_001350522.1:n.-67T>C
NR_134580.1:n.1689T>C
XM_005274210.4:c.906T>C	XP_005274267.1:p.Asp302=
XM_005274215.4:c.588T>C	XP_005274272.1:p.Asp196=
XM_005274216.4:c.929T>C	XP_005274273.1:p.Met310Thr
XM_005274219.4:c.867+1238T>C	XP_005274276.1:n.867+1238T>C
XM_005274221.4:c.714+2072T>C	XP_005274278.1:n.714+2072T>C
XM_011545229.3:c.906T>C	XP_011543531.1:p.Asp302=
XM_011545230.3:c.813T>C	XP_011543532.1:p.Asp271=
XM_011545233.3:c.63T>C	XP_011543535.1:p.Asp21=
XM_017018230.2:c.791T>C	XP_016873719.1:p.Met264Thr
XR_001747952.2:n.1607T>C
XR_001747953.2:n.1557+1238T>C
XR_001747954.2:n.1404+2072T>C
XR_001748245.1:n.196+196A>G
XR_002957249.1:n.196+196A>G
NM_004183.4:c.906T>C MANE Select	NP_004174.1:p.Asp302=
NM_001139443.2:c.726T>C	NP_001132915.1:p.Asp242=
NM_001300786.2:c.688-356T>C	NP_001287715.1:n.688-356T>C
NM_001300787.2:c.726T>C	NP_001287716.1:p.Asp242=
NM_001363591.2:c.588T>C	NP_001350520.1:p.Asp196=
NM_001363593.2:c.-67T>C	NP_001350522.1:n.-67T>C
NR_134580.2:n.1222T>C