Canonical Allele Identifier: CA394550207

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051785641
• MyVariant Identifiers: chr16:g.3777795C>G (hg19) ; chr16:g.3727794C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727794C>G , CM000678.2:g.3727794C>G	GRCh38
NC_000016.9:g.3777795C>G , CM000678.1:g.3777795C>G	GRCh37
NC_000016.8:g.3717796C>G	NCBI36
NG_009873.1:g.157327G>C
NG_009873.2:g.157920G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7253G>C MANE Select	ENSP00000262367.5:p.Ser2418Thr
ENST00000262367.9:c.7253G>C	ENSP00000262367.5:p.Ser2418Thr
ENST00000382070.7:c.7139G>C	ENSP00000371502.3:p.Ser2380Thr
NM_001079846.1:c.7139G>C	NP_001073315.1:p.Ser2380Thr
NM_004380.2:c.7253G>C	NP_004371.2:p.Ser2418Thr
XM_005255124.3:c.7208G>C	XP_005255181.1:p.Ser2403Thr
XM_005255125.3:c.6836G>C	XP_005255182.1:p.Ser2279Thr
XM_006720848.2:c.6992G>C	XP_006720911.1:p.Ser2331Thr
XM_011522380.1:c.7199G>C	XP_011520682.1:p.Ser2400Thr
XM_011522381.1:c.6500G>C	XP_011520683.1:p.Ser2167Thr
XM_005255124.4:c.7208G>C	XP_005255181.1:p.Ser2403Thr
XM_005255125.4:c.6836G>C	XP_005255182.1:p.Ser2279Thr
XM_006720848.3:c.6992G>C	XP_006720911.1:p.Ser2331Thr
XM_011522381.2:c.6500G>C	XP_011520683.1:p.Ser2167Thr
XM_017022944.1:c.7247G>C	XP_016878433.1:p.Ser2416Thr
NM_004380.3:c.7253G>C MANE Select	NP_004371.2:p.Ser2418Thr