Canonical Allele Identifier: CA394553868

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305409
• gnomAD v4: 16-3728826-A-G
• MyVariant Identifiers: chr16:g.3778827A>G (hg19) ; chr16:g.3728826A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728826A>G , CM000678.2:g.3728826A>G	GRCh38
NC_000016.9:g.3778827A>G , CM000678.1:g.3778827A>G	GRCh37
NC_000016.8:g.3718828A>G	NCBI36
NG_009873.1:g.156295T>C
NG_009873.2:g.156888T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6221T>C MANE Select	ENSP00000262367.5:p.Leu2074Pro
ENST00000262367.9:c.6221T>C	ENSP00000262367.5:p.Leu2074Pro
ENST00000382070.7:c.6107T>C	ENSP00000371502.3:p.Leu2036Pro
NM_001079846.1:c.6107T>C	NP_001073315.1:p.Leu2036Pro
NM_004380.2:c.6221T>C	NP_004371.2:p.Leu2074Pro
XM_005255124.3:c.6176T>C	XP_005255181.1:p.Leu2059Pro
XM_005255125.3:c.5804T>C	XP_005255182.1:p.Leu1935Pro
XM_006720848.2:c.5960T>C	XP_006720911.1:p.Leu1987Pro
XM_011522380.1:c.6167T>C	XP_011520682.1:p.Leu2056Pro
XM_011522381.1:c.5468T>C	XP_011520683.1:p.Leu1823Pro
XM_005255124.4:c.6176T>C	XP_005255181.1:p.Leu2059Pro
XM_005255125.4:c.5804T>C	XP_005255182.1:p.Leu1935Pro
XM_006720848.3:c.5960T>C	XP_006720911.1:p.Leu1987Pro
XM_011522381.2:c.5468T>C	XP_011520683.1:p.Leu1823Pro
XM_017022944.1:c.6215T>C	XP_016878433.1:p.Leu2072Pro
NM_004380.3:c.6221T>C MANE Select	NP_004371.2:p.Leu2074Pro