Canonical Allele Identifier: CA394551557

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3820860G>T (hg19) ; chr16:g.3770859G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770859G>T , CM000678.2:g.3770859G>T	GRCh38
NC_000016.9:g.3820860G>T , CM000678.1:g.3820860G>T	GRCh37
NC_000016.8:g.3760861G>T	NCBI36
NG_009873.1:g.114262C>A
NG_009873.2:g.114855C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2591C>A MANE Select	ENSP00000262367.5:p.Ala864Asp
ENST00000262367.9:c.2591C>A	ENSP00000262367.5:p.Ala864Asp
ENST00000382070.7:c.2477C>A	ENSP00000371502.3:p.Ala826Asp
ENST00000570939.2:c.1196C>A	ENSP00000461002.2:p.Ala399Asp
NM_001079846.1:c.2477C>A	NP_001073315.1:p.Ala826Asp
NM_004380.2:c.2591C>A	NP_004371.2:p.Ala864Asp
XM_005255124.3:c.2546C>A	XP_005255181.1:p.Ala849Asp
XM_005255125.3:c.2464-1506C>A	XP_005255182.1:n.2464-1506C>A
XM_006720848.2:c.2591C>A	XP_006720911.1:p.Ala864Asp
XM_011522380.1:c.2537C>A	XP_011520682.1:p.Ala846Asp
XM_011522381.1:c.1838C>A	XP_011520683.1:p.Ala613Asp
XM_011522382.1:c.2591C>A	XP_011520684.1:p.Ala864Asp
XM_005255124.4:c.2546C>A	XP_005255181.1:p.Ala849Asp
XM_005255125.4:c.2464-1506C>A	XP_005255182.1:n.2464-1506C>A
XM_006720848.3:c.2591C>A	XP_006720911.1:p.Ala864Asp
XM_011522381.2:c.1838C>A	XP_011520683.1:p.Ala613Asp
XM_011522382.3:c.2591C>A	XP_011520684.1:p.Ala864Asp
XM_017022944.1:c.2585C>A	XP_016878433.1:p.Ala862Asp
NM_004380.3:c.2591C>A MANE Select	NP_004371.2:p.Ala864Asp