Canonical Allele Identifier: CA394564270

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3738560C>G , CM000678.2:g.3738560C>G	GRCh38
NC_000016.9:g.3788561C>G , CM000678.1:g.3788561C>G	GRCh37
NC_000016.8:g.3728562C>G	NCBI36
NG_009873.1:g.146561G>C
NG_009873.2:g.147154G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4393G>C MANE Select	NP_004371.2:p.Gly1465Arg
ENST00000262367.10:c.4393G>C MANE Select	ENSP00000262367.5:p.Gly1465Arg
NM_001079846.1:c.4279G>C	NP_001073315.1:p.Gly1427Arg
NM_004380.2:c.4393G>C	NP_004371.2:p.Gly1465Arg
ENST00000262367.9:c.4393G>C	ENSP00000262367.5:p.Gly1465Arg
ENST00000382070.7:c.4279G>C	ENSP00000371502.3:p.Gly1427Arg
ENST00000570939.2:c.3028G>C	ENSP00000461002.2:p.Gly1010Arg
ENST00000574740.1:n.216-1745G>C
ENST00000576720.1:n.3217+1018G>C
XM_005255124.3:c.4348G>C	XP_005255181.1:p.Gly1450Arg
XM_005255124.4:c.4348G>C	XP_005255181.1:p.Gly1450Arg
XM_005255125.3:c.3976G>C	XP_005255182.1:p.Gly1326Arg
XM_005255125.4:c.3976G>C	XP_005255182.1:p.Gly1326Arg
XM_006720848.2:c.4134-1745G>C	XP_006720911.1:n.4134-1745G>C
XM_006720848.3:c.4134-1745G>C	XP_006720911.1:n.4134-1745G>C
XM_011522380.1:c.4339G>C	XP_011520682.1:p.Gly1447Arg
XM_011522381.1:c.3640G>C	XP_011520683.1:p.Gly1214Arg
XM_011522381.2:c.3640G>C	XP_011520683.1:p.Gly1214Arg
XM_017022944.1:c.4387G>C	XP_016878433.1:p.Gly1463Arg