Canonical Allele Identifier: CA380844182

Gene: BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61727043A>C (hg19) ; chr11:g.61959571A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959571A>C , CM000673.2:g.61959571A>C	GRCh38
NC_000011.9:g.61727043A>C , CM000673.1:g.61727043A>C	GRCh37
NC_000011.8:g.61483619A>C	NCBI36
NG_009033.1:g.14688A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.941A>C MANE Select	ENSP00000367282.4:p.Asn314Thr
ENST00000378043.8:c.941A>C	ENSP00000367282.4:p.Asn314Thr
ENST00000449131.6:c.761A>C	ENSP00000399709.2:p.Asn254Thr
ENST00000524877.5:n.2572A>C
ENST00000524926.5:c.1144A>C	ENSP00000432681.1:p.Ile382Leu
ENST00000526988.1:c.826A>C	ENSP00000433195.1:p.Ile276Leu
ENST00000534553.5:c.164-2684A>C	ENSP00000431189.1:n.164-2684A>C
NM_001139443.1:c.761A>C	NP_001132915.1:p.Asn254Thr
NM_001300786.1:c.688-321A>C	NP_001287715.1:n.688-321A>C
NM_001300787.1:c.761A>C	NP_001287716.1:p.Asn254Thr
NM_004183.3:c.941A>C	NP_004174.1:p.Asn314Thr
XM_005274210.2:c.941A>C	XP_005274267.1:p.Asn314Thr
XM_005274215.2:c.623A>C	XP_005274272.1:p.Asn208Thr
XM_005274216.2:c.964A>C	XP_005274273.1:p.Ile322Leu
XM_005274218.3:c.826A>C	XP_005274275.1:p.Ile276Leu
XM_005274219.2:c.867+1273A>C	XP_005274276.1:n.867+1273A>C
XM_005274221.2:c.714+2107A>C	XP_005274278.1:n.714+2107A>C
XM_011545229.1:c.941A>C	XP_011543531.1:p.Asn314Thr
XM_011545230.1:c.848A>C	XP_011543532.1:p.Asn283Thr
XM_011545231.1:c.623A>C	XP_011543533.1:p.Asn208Thr
XM_011545232.1:c.1144A>C	XP_011543534.1:p.Ile382Leu
XM_011545233.1:c.98A>C	XP_011543535.1:p.Asn33Thr
NM_001363591.1:c.623A>C	NP_001350520.1:p.Asn208Thr
NM_001363592.1:c.1144A>C	NP_001350521.1:p.Ile382Leu
NM_001363593.1:c.-32A>C	NP_001350522.1:n.-32A>C
NR_134580.1:n.1724A>C
XM_005274210.4:c.941A>C	XP_005274267.1:p.Asn314Thr
XM_005274215.4:c.623A>C	XP_005274272.1:p.Asn208Thr
XM_005274216.4:c.964A>C	XP_005274273.1:p.Ile322Leu
XM_005274219.4:c.867+1273A>C	XP_005274276.1:n.867+1273A>C
XM_005274221.4:c.714+2107A>C	XP_005274278.1:n.714+2107A>C
XM_011545229.3:c.941A>C	XP_011543531.1:p.Asn314Thr
XM_011545230.3:c.848A>C	XP_011543532.1:p.Asn283Thr
XM_011545233.3:c.98A>C	XP_011543535.1:p.Asn33Thr
XM_017018230.2:c.826A>C	XP_016873719.1:p.Ile276Leu
XR_001747952.2:n.1642A>C
XR_001747953.2:n.1557+1273A>C
XR_001747954.2:n.1404+2107A>C
XR_001748245.1:n.196+161T>G
XR_002957249.1:n.196+161T>G
NM_004183.4:c.941A>C MANE Select	NP_004174.1:p.Asn314Thr
NM_001139443.2:c.761A>C	NP_001132915.1:p.Asn254Thr
NM_001300786.2:c.688-321A>C	NP_001287715.1:n.688-321A>C
NM_001300787.2:c.761A>C	NP_001287716.1:p.Asn254Thr
NM_001363591.2:c.623A>C	NP_001350520.1:p.Asn208Thr
NM_001363593.2:c.-32A>C	NP_001350522.1:n.-32A>C
NR_134580.2:n.1257A>C