Canonical Allele Identifier: CA394551763

Gene: CREBBP

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770915G>C , CM000678.2:g.3770915G>C	GRCh38
NC_000016.9:g.3820916G>C , CM000678.1:g.3820916G>C	GRCh37
NC_000016.8:g.3760917G>C	NCBI36
NG_009873.1:g.114206C>G
NG_009873.2:g.114799C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2535C>G MANE Select	ENSP00000262367.5:p.Cys845Trp
ENST00000262367.9:c.2535C>G	ENSP00000262367.5:p.Cys845Trp
ENST00000382070.7:c.2421C>G	ENSP00000371502.3:p.Cys807Trp
ENST00000570939.2:c.1140C>G	ENSP00000461002.2:p.Cys380Trp
NM_001079846.1:c.2421C>G	NP_001073315.1:p.Cys807Trp
NM_004380.2:c.2535C>G	NP_004371.2:p.Cys845Trp
XM_005255124.3:c.2490C>G	XP_005255181.1:p.Cys830Trp
XM_005255125.3:c.2464-1562C>G	XP_005255182.1:n.2464-1562C>G
XM_006720848.2:c.2535C>G	XP_006720911.1:p.Cys845Trp
XM_011522380.1:c.2481C>G	XP_011520682.1:p.Cys827Trp
XM_011522381.1:c.1782C>G	XP_011520683.1:p.Cys594Trp
XM_011522382.1:c.2535C>G	XP_011520684.1:p.Cys845Trp
XM_005255124.4:c.2490C>G	XP_005255181.1:p.Cys830Trp
XM_005255125.4:c.2464-1562C>G	XP_005255182.1:n.2464-1562C>G
XM_006720848.3:c.2535C>G	XP_006720911.1:p.Cys845Trp
XM_011522381.2:c.1782C>G	XP_011520683.1:p.Cys594Trp
XM_011522382.3:c.2535C>G	XP_011520684.1:p.Cys845Trp
XM_017022944.1:c.2529C>G	XP_016878433.1:p.Cys843Trp
NM_004380.3:c.2535C>G MANE Select	NP_004371.2:p.Cys845Trp