Canonical Allele Identifier: CA394553869

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305409
• MyVariant Identifiers: chr16:g.3778827A>C (hg19) ; chr16:g.3728826A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6221T>G MANE Select	ENSP00000262367.5:p.Leu2074Arg
ENST00000262367.9:c.6221T>G	ENSP00000262367.5:p.Leu2074Arg
ENST00000382070.7:c.6107T>G	ENSP00000371502.3:p.Leu2036Arg
NM_001079846.1:c.6107T>G	NP_001073315.1:p.Leu2036Arg
NM_004380.2:c.6221T>G	NP_004371.2:p.Leu2074Arg
XM_005255124.3:c.6176T>G	XP_005255181.1:p.Leu2059Arg
XM_005255125.3:c.5804T>G	XP_005255182.1:p.Leu1935Arg
XM_006720848.2:c.5960T>G	XP_006720911.1:p.Leu1987Arg
XM_011522380.1:c.6167T>G	XP_011520682.1:p.Leu2056Arg
XM_011522381.1:c.5468T>G	XP_011520683.1:p.Leu1823Arg
XM_005255124.4:c.6176T>G	XP_005255181.1:p.Leu2059Arg
XM_005255125.4:c.5804T>G	XP_005255182.1:p.Leu1935Arg
XM_006720848.3:c.5960T>G	XP_006720911.1:p.Leu1987Arg
XM_011522381.2:c.5468T>G	XP_011520683.1:p.Leu1823Arg
XM_017022944.1:c.6215T>G	XP_016878433.1:p.Leu2072Arg
NM_004380.3:c.6221T>G MANE Select	NP_004371.2:p.Leu2074Arg