Canonical Allele Identifier: CA493394207

Gene: CREBBP

Linked Data

• dbSNP Id: rs1193335086
• gnomAD v2: 16-3779048-C-G
• gnomAD v4: 16-3729047-C-G
• MyVariant Identifiers: chr16:g.3779048C>G (hg19) ; chr16:g.3729047C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729047C>G , CM000678.2:g.3729047C>G	GRCh38
NC_000016.9:g.3779048C>G , CM000678.1:g.3779048C>G	GRCh37
NC_000016.8:g.3719049C>G	NCBI36
NG_009873.1:g.156074G>C
NG_009873.2:g.156667G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6000G>C MANE Select	ENSP00000262367.5:p.Leu2000=
ENST00000262367.9:c.6000G>C	ENSP00000262367.5:p.Leu2000=
ENST00000382070.7:c.5886G>C	ENSP00000371502.3:p.Leu1962=
NM_001079846.1:c.5886G>C	NP_001073315.1:p.Leu1962=
NM_004380.2:c.6000G>C	NP_004371.2:p.Leu2000=
XM_005255124.3:c.5955G>C	XP_005255181.1:p.Leu1985=
XM_005255125.3:c.5583G>C	XP_005255182.1:p.Leu1861=
XM_006720848.2:c.5739G>C	XP_006720911.1:p.Leu1913=
XM_011522380.1:c.5946G>C	XP_011520682.1:p.Leu1982=
XM_011522381.1:c.5247G>C	XP_011520683.1:p.Leu1749=
XM_005255124.4:c.5955G>C	XP_005255181.1:p.Leu1985=
XM_005255125.4:c.5583G>C	XP_005255182.1:p.Leu1861=
XM_006720848.3:c.5739G>C	XP_006720911.1:p.Leu1913=
XM_011522381.2:c.5247G>C	XP_011520683.1:p.Leu1749=
XM_017022944.1:c.5994G>C	XP_016878433.1:p.Leu1998=
NM_004380.3:c.6000G>C MANE Select	NP_004371.2:p.Leu2000=