Canonical Allele Identifier: CA394564921

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151337408
• MyVariant Identifiers: chr16:g.3789688A>C (hg19) ; chr16:g.3739687A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739687A>C , CM000678.2:g.3739687A>C	GRCh38
NC_000016.9:g.3789688A>C , CM000678.1:g.3789688A>C	GRCh37
NC_000016.8:g.3729689A>C	NCBI36
NG_009873.1:g.145434T>G
NG_009873.2:g.146027T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4171T>G MANE Select	ENSP00000262367.5:p.Tyr1391Asp
ENST00000262367.9:c.4171T>G	ENSP00000262367.5:p.Tyr1391Asp
ENST00000382070.7:c.4057T>G	ENSP00000371502.3:p.Tyr1353Asp
ENST00000570939.2:c.2806T>G	ENSP00000461002.2:p.Tyr936Asp
ENST00000573517.6:c.477T>G
ENST00000574740.1:n.215+712T>G
ENST00000576720.1:n.3108T>G
NM_001079846.1:c.4057T>G	NP_001073315.1:p.Tyr1353Asp
NM_004380.2:c.4171T>G	NP_004371.2:p.Tyr1391Asp
XM_005255124.3:c.4126T>G	XP_005255181.1:p.Tyr1376Asp
XM_005255125.3:c.3754T>G	XP_005255182.1:p.Tyr1252Asp
XM_006720848.2:c.4133+712T>G	XP_006720911.1:n.4133+712T>G
XM_011522380.1:c.4117T>G	XP_011520682.1:p.Tyr1373Asp
XM_011522381.1:c.3418T>G	XP_011520683.1:p.Tyr1140Asp
XM_005255124.4:c.4126T>G	XP_005255181.1:p.Tyr1376Asp
XM_005255125.4:c.3754T>G	XP_005255182.1:p.Tyr1252Asp
XM_006720848.3:c.4133+712T>G	XP_006720911.1:n.4133+712T>G
XM_011522381.2:c.3418T>G	XP_011520683.1:p.Tyr1140Asp
XM_017022944.1:c.4165T>G	XP_016878433.1:p.Tyr1389Asp
NM_004380.3:c.4171T>G MANE Select	NP_004371.2:p.Tyr1391Asp