Canonical Allele Identifier: CA394565987

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3810674-T-G
• MyVariant Identifiers: chr16:g.3860675T>G (hg19) ; chr16:g.3810674T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810674T>G , CM000678.2:g.3810674T>G	GRCh38
NC_000016.9:g.3860675T>G , CM000678.1:g.3860675T>G	GRCh37
NC_000016.8:g.3800676T>G	NCBI36
NG_009873.1:g.74447A>C
NG_009873.2:g.75040A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.904A>C MANE Select	ENSP00000262367.5:p.Ser302Arg
ENST00000262367.9:c.904A>C	ENSP00000262367.5:p.Ser302Arg
ENST00000382070.7:c.904A>C	ENSP00000371502.3:p.Ser302Arg
NM_001079846.1:c.904A>C	NP_001073315.1:p.Ser302Arg
NM_004380.2:c.904A>C	NP_004371.2:p.Ser302Arg
XM_005255124.3:c.904A>C	XP_005255181.1:p.Ser302Arg
XM_005255125.3:c.904A>C	XP_005255182.1:p.Ser302Arg
XM_006720848.2:c.904A>C	XP_006720911.1:p.Ser302Arg
XM_011522380.1:c.850A>C	XP_011520682.1:p.Ser284Arg
XM_011522381.1:c.151A>C	XP_011520683.1:p.Ser51Arg
XM_011522382.1:c.904A>C	XP_011520684.1:p.Ser302Arg
XM_005255124.4:c.904A>C	XP_005255181.1:p.Ser302Arg
XM_005255125.4:c.904A>C	XP_005255182.1:p.Ser302Arg
XM_006720848.3:c.904A>C	XP_006720911.1:p.Ser302Arg
XM_011522381.2:c.151A>C	XP_011520683.1:p.Ser51Arg
XM_011522382.3:c.904A>C	XP_011520684.1:p.Ser302Arg
XM_017022944.1:c.904A>C	XP_016878433.1:p.Ser302Arg
NM_004380.3:c.904A>C MANE Select	NP_004371.2:p.Ser302Arg