Canonical Allele Identifier: CA380843781

Gene: BEST1

Linked Data

• gnomAD v4: 11-61959521-C-T
• MyVariant Identifiers: chr11:g.61726993C>T (hg19) ; chr11:g.61959521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959521C>T , CM000673.2:g.61959521C>T	GRCh38
NC_000011.9:g.61726993C>T , CM000673.1:g.61726993C>T	GRCh37
NC_000011.8:g.61483569C>T	NCBI36
NG_009033.1:g.14638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.891C>T MANE Select	ENSP00000367282.4:p.Pro297=
ENST00000378043.8:c.891C>T	ENSP00000367282.4:p.Pro297=
ENST00000449131.6:c.711C>T	ENSP00000399709.2:p.Pro237=
ENST00000524877.5:n.2522C>T
ENST00000524926.5:c.1094C>T	ENSP00000432681.1:p.Pro365Leu
ENST00000526988.1:c.776C>T	ENSP00000433195.1:p.Pro259Leu
ENST00000534553.5:c.164-2734C>T	ENSP00000431189.1:n.164-2734C>T
NM_001139443.1:c.711C>T	NP_001132915.1:p.Pro237=
NM_001300786.1:c.688-371C>T	NP_001287715.1:n.688-371C>T
NM_001300787.1:c.711C>T	NP_001287716.1:p.Pro237=
NM_004183.3:c.891C>T	NP_004174.1:p.Pro297=
XM_005274210.2:c.891C>T	XP_005274267.1:p.Pro297=
XM_005274215.2:c.573C>T	XP_005274272.1:p.Pro191=
XM_005274216.2:c.914C>T	XP_005274273.1:p.Pro305Leu
XM_005274218.3:c.776C>T	XP_005274275.1:p.Pro259Leu
XM_005274219.2:c.867+1223C>T	XP_005274276.1:n.867+1223C>T
XM_005274221.2:c.714+2057C>T	XP_005274278.1:n.714+2057C>T
XM_011545229.1:c.891C>T	XP_011543531.1:p.Pro297=
XM_011545230.1:c.798C>T	XP_011543532.1:p.Pro266=
XM_011545231.1:c.573C>T	XP_011543533.1:p.Pro191=
XM_011545232.1:c.1094C>T	XP_011543534.1:p.Pro365Leu
XM_011545233.1:c.48C>T	XP_011543535.1:p.Pro16=
NM_001363591.1:c.573C>T	NP_001350520.1:p.Pro191=
NM_001363592.1:c.1094C>T	NP_001350521.1:p.Pro365Leu
NM_001363593.1:c.-82C>T	NP_001350522.1:n.-82C>T
NR_134580.1:n.1674C>T
XM_005274210.4:c.891C>T	XP_005274267.1:p.Pro297=
XM_005274215.4:c.573C>T	XP_005274272.1:p.Pro191=
XM_005274216.4:c.914C>T	XP_005274273.1:p.Pro305Leu
XM_005274219.4:c.867+1223C>T	XP_005274276.1:n.867+1223C>T
XM_005274221.4:c.714+2057C>T	XP_005274278.1:n.714+2057C>T
XM_011545229.3:c.891C>T	XP_011543531.1:p.Pro297=
XM_011545230.3:c.798C>T	XP_011543532.1:p.Pro266=
XM_011545233.3:c.48C>T	XP_011543535.1:p.Pro16=
XM_017018230.2:c.776C>T	XP_016873719.1:p.Pro259Leu
XR_001747952.2:n.1592C>T
XR_001747953.2:n.1557+1223C>T
XR_001747954.2:n.1404+2057C>T
XR_001748245.1:n.196+211G>A
XR_002957249.1:n.196+211G>A
NM_004183.4:c.891C>T MANE Select	NP_004174.1:p.Pro297=
NM_001139443.2:c.711C>T	NP_001132915.1:p.Pro237=
NM_001300786.2:c.688-371C>T	NP_001287715.1:n.688-371C>T
NM_001300787.2:c.711C>T	NP_001287716.1:p.Pro237=
NM_001363591.2:c.573C>T	NP_001350520.1:p.Pro191=
NM_001363593.2:c.-82C>T	NP_001350522.1:n.-82C>T
NR_134580.2:n.1207C>T