Canonical Allele Identifier: CA394564675

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151336498
• gnomAD v4: 16-3739576-A-G
• COSMIC: COSM317185
• MyVariant Identifiers: chr16:g.3789577A>G (hg19) ; chr16:g.3739576A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739576A>G , CM000678.2:g.3739576A>G	GRCh38
NC_000016.9:g.3789577A>G , CM000678.1:g.3789577A>G	GRCh37
NC_000016.8:g.3729578A>G	NCBI36
NG_009873.1:g.145545T>C
NG_009873.2:g.146138T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4280+2T>C MANE Select	ENSP00000262367.5:n.4280+2T>C
ENST00000262367.9:c.4280+2T>C	ENSP00000262367.5:n.4280+2T>C
ENST00000382070.7:c.4166+2T>C	ENSP00000371502.3:n.4166+2T>C
ENST00000570939.2:c.2915+2T>C	ENSP00000461002.2:n.2915+2T>C
ENST00000573517.6:c.588T>C
ENST00000574740.1:n.215+823T>C
ENST00000576720.1:n.3217+2T>C
NM_001079846.1:c.4166+2T>C	NP_001073315.1:n.4166+2T>C
NM_004380.2:c.4280+2T>C	NP_004371.2:n.4280+2T>C
XM_005255124.3:c.4235+2T>C	XP_005255181.1:n.4235+2T>C
XM_005255125.3:c.3863+2T>C	XP_005255182.1:n.3863+2T>C
XM_006720848.2:c.4133+823T>C	XP_006720911.1:n.4133+823T>C
XM_011522380.1:c.4226+2T>C	XP_011520682.1:n.4226+2T>C
XM_011522381.1:c.3527+2T>C	XP_011520683.1:n.3527+2T>C
XM_005255124.4:c.4235+2T>C	XP_005255181.1:n.4235+2T>C
XM_005255125.4:c.3863+2T>C	XP_005255182.1:n.3863+2T>C
XM_006720848.3:c.4133+823T>C	XP_006720911.1:n.4133+823T>C
XM_011522381.2:c.3527+2T>C	XP_011520683.1:n.3527+2T>C
XM_017022944.1:c.4274+2T>C	XP_016878433.1:n.4274+2T>C
NM_004380.3:c.4280+2T>C MANE Select	NP_004371.2:n.4280+2T>C