Canonical Allele Identifier: CA394566004

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3810681-G-C
• MyVariant Identifiers: chr16:g.3860682G>C (hg19) ; chr16:g.3810681G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810681G>C , CM000678.2:g.3810681G>C	GRCh38
NC_000016.9:g.3860682G>C , CM000678.1:g.3860682G>C	GRCh37
NC_000016.8:g.3800683G>C	NCBI36
NG_009873.1:g.74440C>G
NG_009873.2:g.75033C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.897C>G MANE Select	ENSP00000262367.5:p.Ser299Arg
ENST00000262367.9:c.897C>G	ENSP00000262367.5:p.Ser299Arg
ENST00000382070.7:c.897C>G	ENSP00000371502.3:p.Ser299Arg
NM_001079846.1:c.897C>G	NP_001073315.1:p.Ser299Arg
NM_004380.2:c.897C>G	NP_004371.2:p.Ser299Arg
XM_005255124.3:c.897C>G	XP_005255181.1:p.Ser299Arg
XM_005255125.3:c.897C>G	XP_005255182.1:p.Ser299Arg
XM_006720848.2:c.897C>G	XP_006720911.1:p.Ser299Arg
XM_011522380.1:c.843C>G	XP_011520682.1:p.Ser281Arg
XM_011522381.1:c.144C>G	XP_011520683.1:p.Ser48Arg
XM_011522382.1:c.897C>G	XP_011520684.1:p.Ser299Arg
XM_005255124.4:c.897C>G	XP_005255181.1:p.Ser299Arg
XM_005255125.4:c.897C>G	XP_005255182.1:p.Ser299Arg
XM_006720848.3:c.897C>G	XP_006720911.1:p.Ser299Arg
XM_011522381.2:c.144C>G	XP_011520683.1:p.Ser48Arg
XM_011522382.3:c.897C>G	XP_011520684.1:p.Ser299Arg
XM_017022944.1:c.897C>G	XP_016878433.1:p.Ser299Arg
NM_004380.3:c.897C>G MANE Select	NP_004371.2:p.Ser299Arg