Canonical Allele Identifier: CA394553937

Gene: CREBBP

Linked Data

• dbSNP Id: rs780383901
• MyVariant Identifiers: chr16:g.3778862G>C (hg19) ; chr16:g.3728861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728861G>C , CM000678.2:g.3728861G>C	GRCh38
NC_000016.9:g.3778862G>C , CM000678.1:g.3778862G>C	GRCh37
NC_000016.8:g.3718863G>C	NCBI36
NG_009873.1:g.156260C>G
NG_009873.2:g.156853C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6186C>G MANE Select	ENSP00000262367.5:p.Ile2062Met
ENST00000262367.9:c.6186C>G	ENSP00000262367.5:p.Ile2062Met
ENST00000382070.7:c.6072C>G	ENSP00000371502.3:p.Ile2024Met
NM_001079846.1:c.6072C>G	NP_001073315.1:p.Ile2024Met
NM_004380.2:c.6186C>G	NP_004371.2:p.Ile2062Met
XM_005255124.3:c.6141C>G	XP_005255181.1:p.Ile2047Met
XM_005255125.3:c.5769C>G	XP_005255182.1:p.Ile1923Met
XM_006720848.2:c.5925C>G	XP_006720911.1:p.Ile1975Met
XM_011522380.1:c.6132C>G	XP_011520682.1:p.Ile2044Met
XM_011522381.1:c.5433C>G	XP_011520683.1:p.Ile1811Met
XM_005255124.4:c.6141C>G	XP_005255181.1:p.Ile2047Met
XM_005255125.4:c.5769C>G	XP_005255182.1:p.Ile1923Met
XM_006720848.3:c.5925C>G	XP_006720911.1:p.Ile1975Met
XM_011522381.2:c.5433C>G	XP_011520683.1:p.Ile1811Met
XM_017022944.1:c.6180C>G	XP_016878433.1:p.Ile2060Met
NM_004380.3:c.6186C>G MANE Select	NP_004371.2:p.Ile2062Met