Canonical Allele Identifier: CA394551543

Gene: CREBBP

Linked Data

• dbSNP Id: rs368912102
• MyVariant Identifiers: chr16:g.3820855T>G (hg19) ; chr16:g.3770854T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770854T>G , CM000678.2:g.3770854T>G	GRCh38
NC_000016.9:g.3820855T>G , CM000678.1:g.3820855T>G	GRCh37
NC_000016.8:g.3760856T>G	NCBI36
NG_009873.1:g.114267A>C
NG_009873.2:g.114860A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2596A>C MANE Select	ENSP00000262367.5:p.Met866Leu
ENST00000262367.9:c.2596A>C	ENSP00000262367.5:p.Met866Leu
ENST00000382070.7:c.2482A>C	ENSP00000371502.3:p.Met828Leu
ENST00000570939.2:c.1201A>C	ENSP00000461002.2:p.Met401Leu
NM_001079846.1:c.2482A>C	NP_001073315.1:p.Met828Leu
NM_004380.2:c.2596A>C	NP_004371.2:p.Met866Leu
XM_005255124.3:c.2551A>C	XP_005255181.1:p.Met851Leu
XM_005255125.3:c.2464-1501A>C	XP_005255182.1:n.2464-1501A>C
XM_006720848.2:c.2596A>C	XP_006720911.1:p.Met866Leu
XM_011522380.1:c.2542A>C	XP_011520682.1:p.Met848Leu
XM_011522381.1:c.1843A>C	XP_011520683.1:p.Met615Leu
XM_011522382.1:c.2596A>C	XP_011520684.1:p.Met866Leu
XM_005255124.4:c.2551A>C	XP_005255181.1:p.Met851Leu
XM_005255125.4:c.2464-1501A>C	XP_005255182.1:n.2464-1501A>C
XM_006720848.3:c.2596A>C	XP_006720911.1:p.Met866Leu
XM_011522381.2:c.1843A>C	XP_011520683.1:p.Met615Leu
XM_011522382.3:c.2596A>C	XP_011520684.1:p.Met866Leu
XM_017022944.1:c.2590A>C	XP_016878433.1:p.Met864Leu
NM_004380.3:c.2596A>C MANE Select	NP_004371.2:p.Met866Leu