Canonical Allele Identifier: CA394569508

Gene: CREBBP

Linked Data

• dbSNP Id: rs1596856319
• MyVariant Identifiers: chr16:g.3808897T>G (hg19) ; chr16:g.3758896T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3758896T>G , CM000678.2:g.3758896T>G	GRCh38
NC_000016.9:g.3808897T>G , CM000678.1:g.3808897T>G	GRCh37
NC_000016.8:g.3748898T>G	NCBI36
NG_009873.1:g.126225A>C
NG_009873.2:g.126818A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3327A>C MANE Select	ENSP00000262367.5:p.Leu1109Phe
ENST00000262367.9:c.3327A>C	ENSP00000262367.5:p.Leu1109Phe
ENST00000382070.7:c.3213A>C	ENSP00000371502.3:p.Leu1071Phe
ENST00000570939.2:c.1932A>C	ENSP00000461002.2:p.Leu644Phe
NM_001079846.1:c.3213A>C	NP_001073315.1:p.Leu1071Phe
NM_004380.2:c.3327A>C	NP_004371.2:p.Leu1109Phe
XM_005255124.3:c.3282A>C	XP_005255181.1:p.Leu1094Phe
XM_005255125.3:c.2910A>C	XP_005255182.1:p.Leu970Phe
XM_006720848.2:c.3327A>C	XP_006720911.1:p.Leu1109Phe
XM_011522380.1:c.3273A>C	XP_011520682.1:p.Leu1091Phe
XM_011522381.1:c.2574A>C	XP_011520683.1:p.Leu858Phe
XM_011522382.1:c.3327A>C	XP_011520684.1:p.Leu1109Phe
XM_005255124.4:c.3282A>C	XP_005255181.1:p.Leu1094Phe
XM_005255125.4:c.2910A>C	XP_005255182.1:p.Leu970Phe
XM_006720848.3:c.3327A>C	XP_006720911.1:p.Leu1109Phe
XM_011522381.2:c.2574A>C	XP_011520683.1:p.Leu858Phe
XM_011522382.3:c.3327A>C	XP_011520684.1:p.Leu1109Phe
XM_017022944.1:c.3321A>C	XP_016878433.1:p.Leu1107Phe
NM_004380.3:c.3327A>C MANE Select	NP_004371.2:p.Leu1109Phe