Canonical Allele Identifier: CA394564696

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151336559
• COSMIC: COSM4990883
• MyVariant Identifiers: chr16:g.3789588G>A (hg19) ; chr16:g.3739587G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739587G>A , CM000678.2:g.3739587G>A	GRCh38
NC_000016.9:g.3789588G>A , CM000678.1:g.3789588G>A	GRCh37
NC_000016.8:g.3729589G>A	NCBI36
NG_009873.1:g.145534C>T
NG_009873.2:g.146127C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4271C>T MANE Select	ENSP00000262367.5:p.Pro1424Leu
ENST00000262367.9:c.4271C>T	ENSP00000262367.5:p.Pro1424Leu
ENST00000382070.7:c.4157C>T	ENSP00000371502.3:p.Pro1386Leu
ENST00000570939.2:c.2906C>T	ENSP00000461002.2:p.Pro969Leu
ENST00000573517.6:c.577C>T
ENST00000574740.1:n.215+812C>T
ENST00000576720.1:n.3208C>T
NM_001079846.1:c.4157C>T	NP_001073315.1:p.Pro1386Leu
NM_004380.2:c.4271C>T	NP_004371.2:p.Pro1424Leu
XM_005255124.3:c.4226C>T	XP_005255181.1:p.Pro1409Leu
XM_005255125.3:c.3854C>T	XP_005255182.1:p.Pro1285Leu
XM_006720848.2:c.4133+812C>T	XP_006720911.1:n.4133+812C>T
XM_011522380.1:c.4217C>T	XP_011520682.1:p.Pro1406Leu
XM_011522381.1:c.3518C>T	XP_011520683.1:p.Pro1173Leu
XM_005255124.4:c.4226C>T	XP_005255181.1:p.Pro1409Leu
XM_005255125.4:c.3854C>T	XP_005255182.1:p.Pro1285Leu
XM_006720848.3:c.4133+812C>T	XP_006720911.1:n.4133+812C>T
XM_011522381.2:c.3518C>T	XP_011520683.1:p.Pro1173Leu
XM_017022944.1:c.4265C>T	XP_016878433.1:p.Pro1422Leu
NM_004380.3:c.4271C>T MANE Select	NP_004371.2:p.Pro1424Leu