Canonical Allele Identifier: CA394569535

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3808909G>T (hg19) ; chr16:g.3758908G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3758908G>T , CM000678.2:g.3758908G>T	GRCh38
NC_000016.9:g.3808909G>T , CM000678.1:g.3808909G>T	GRCh37
NC_000016.8:g.3748910G>T	NCBI36
NG_009873.1:g.126213C>A
NG_009873.2:g.126806C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3315C>A MANE Select	ENSP00000262367.5:p.Asp1105Glu
ENST00000262367.9:c.3315C>A	ENSP00000262367.5:p.Asp1105Glu
ENST00000382070.7:c.3201C>A	ENSP00000371502.3:p.Asp1067Glu
ENST00000570939.2:c.1920C>A	ENSP00000461002.2:p.Asp640Glu
NM_001079846.1:c.3201C>A	NP_001073315.1:p.Asp1067Glu
NM_004380.2:c.3315C>A	NP_004371.2:p.Asp1105Glu
XM_005255124.3:c.3270C>A	XP_005255181.1:p.Asp1090Glu
XM_005255125.3:c.2898C>A	XP_005255182.1:p.Asp966Glu
XM_006720848.2:c.3315C>A	XP_006720911.1:p.Asp1105Glu
XM_011522380.1:c.3261C>A	XP_011520682.1:p.Asp1087Glu
XM_011522381.1:c.2562C>A	XP_011520683.1:p.Asp854Glu
XM_011522382.1:c.3315C>A	XP_011520684.1:p.Asp1105Glu
XM_005255124.4:c.3270C>A	XP_005255181.1:p.Asp1090Glu
XM_005255125.4:c.2898C>A	XP_005255182.1:p.Asp966Glu
XM_006720848.3:c.3315C>A	XP_006720911.1:p.Asp1105Glu
XM_011522381.2:c.2562C>A	XP_011520683.1:p.Asp854Glu
XM_011522382.3:c.3315C>A	XP_011520684.1:p.Asp1105Glu
XM_017022944.1:c.3309C>A	XP_016878433.1:p.Asp1103Glu
NM_004380.3:c.3315C>A MANE Select	NP_004371.2:p.Asp1105Glu