Canonical Allele Identifier: CA394559240

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2918144
• ClinVar RCV Id: RCV003761124 ; RCV003909142
• MyVariant Identifiers: chr16:g.3900336C>A (hg19) ; chr16:g.3850335C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850335C>A , CM000678.2:g.3850335C>A	GRCh38
NC_000016.9:g.3900336C>A , CM000678.1:g.3900336C>A	GRCh37
NC_000016.8:g.3840337C>A	NCBI36
NG_009873.1:g.34786G>T
NG_009873.2:g.35379G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.760G>T MANE Select	ENSP00000262367.5:p.Ala254Ser
ENST00000262367.9:c.760G>T	ENSP00000262367.5:p.Ala254Ser
ENST00000382070.7:c.760G>T	ENSP00000371502.3:p.Ala254Ser
NM_001079846.1:c.760G>T	NP_001073315.1:p.Ala254Ser
NM_004380.2:c.760G>T	NP_004371.2:p.Ala254Ser
XM_005255124.3:c.760G>T	XP_005255181.1:p.Ala254Ser
XM_005255125.3:c.760G>T	XP_005255182.1:p.Ala254Ser
XM_006720848.2:c.760G>T	XP_006720911.1:p.Ala254Ser
XM_011522380.1:c.706G>T	XP_011520682.1:p.Ala236Ser
XM_011522382.1:c.760G>T	XP_011520684.1:p.Ala254Ser
XM_005255124.4:c.760G>T	XP_005255181.1:p.Ala254Ser
XM_005255125.4:c.760G>T	XP_005255182.1:p.Ala254Ser
XM_006720848.3:c.760G>T	XP_006720911.1:p.Ala254Ser
XM_011522382.3:c.760G>T	XP_011520684.1:p.Ala254Ser
XM_017022944.1:c.760G>T	XP_016878433.1:p.Ala254Ser
NM_004380.3:c.760G>T MANE Select	NP_004371.2:p.Ala254Ser