Canonical Allele Identifier: CA394559157

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3900303C>G (hg19) ; chr16:g.3850302C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850302C>G , CM000678.2:g.3850302C>G	GRCh38
NC_000016.9:g.3900303C>G , CM000678.1:g.3900303C>G	GRCh37
NC_000016.8:g.3840304C>G	NCBI36
NG_009873.1:g.34819G>C
NG_009873.2:g.35412G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.793G>C MANE Select	ENSP00000262367.5:p.Ala265Pro
ENST00000636895.1:n.20G>C
ENST00000262367.9:c.793G>C	ENSP00000262367.5:p.Ala265Pro
ENST00000382070.7:c.793G>C	ENSP00000371502.3:p.Ala265Pro
NM_001079846.1:c.793G>C	NP_001073315.1:p.Ala265Pro
NM_004380.2:c.793G>C	NP_004371.2:p.Ala265Pro
XM_005255124.3:c.793G>C	XP_005255181.1:p.Ala265Pro
XM_005255125.3:c.793G>C	XP_005255182.1:p.Ala265Pro
XM_006720848.2:c.793G>C	XP_006720911.1:p.Ala265Pro
XM_011522380.1:c.739G>C	XP_011520682.1:p.Ala247Pro
XM_011522382.1:c.793G>C	XP_011520684.1:p.Ala265Pro
XM_005255124.4:c.793G>C	XP_005255181.1:p.Ala265Pro
XM_005255125.4:c.793G>C	XP_005255182.1:p.Ala265Pro
XM_006720848.3:c.793G>C	XP_006720911.1:p.Ala265Pro
XM_011522382.3:c.793G>C	XP_011520684.1:p.Ala265Pro
XM_017022944.1:c.793G>C	XP_016878433.1:p.Ala265Pro
NM_004380.3:c.793G>C MANE Select	NP_004371.2:p.Ala265Pro