Canonical Allele Identifier: CA394550830

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299854
• MyVariant Identifiers: chr16:g.3778036A>G (hg19) ; chr16:g.3728035A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728035A>G , CM000678.2:g.3728035A>G	GRCh38
NC_000016.9:g.3778036A>G , CM000678.1:g.3778036A>G	GRCh37
NC_000016.8:g.3718037A>G	NCBI36
NG_009873.1:g.157086T>C
NG_009873.2:g.157679T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7012T>C MANE Select	ENSP00000262367.5:p.Ser2338Pro
ENST00000262367.9:c.7012T>C	ENSP00000262367.5:p.Ser2338Pro
ENST00000382070.7:c.6898T>C	ENSP00000371502.3:p.Ser2300Pro
NM_001079846.1:c.6898T>C	NP_001073315.1:p.Ser2300Pro
NM_004380.2:c.7012T>C	NP_004371.2:p.Ser2338Pro
XM_005255124.3:c.6967T>C	XP_005255181.1:p.Ser2323Pro
XM_005255125.3:c.6595T>C	XP_005255182.1:p.Ser2199Pro
XM_006720848.2:c.6751T>C	XP_006720911.1:p.Ser2251Pro
XM_011522380.1:c.6958T>C	XP_011520682.1:p.Ser2320Pro
XM_011522381.1:c.6259T>C	XP_011520683.1:p.Ser2087Pro
XM_005255124.4:c.6967T>C	XP_005255181.1:p.Ser2323Pro
XM_005255125.4:c.6595T>C	XP_005255182.1:p.Ser2199Pro
XM_006720848.3:c.6751T>C	XP_006720911.1:p.Ser2251Pro
XM_011522381.2:c.6259T>C	XP_011520683.1:p.Ser2087Pro
XM_017022944.1:c.7006T>C	XP_016878433.1:p.Ser2336Pro
NM_004380.3:c.7012T>C MANE Select	NP_004371.2:p.Ser2338Pro