Canonical Allele Identifier: CA394553836

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728812-A-C
• MyVariant Identifiers: chr16:g.3778813A>C (hg19) ; chr16:g.3728812A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728812A>C , CM000678.2:g.3728812A>C	GRCh38
NC_000016.9:g.3778813A>C , CM000678.1:g.3778813A>C	GRCh37
NC_000016.8:g.3718814A>C	NCBI36
NG_009873.1:g.156309T>G
NG_009873.2:g.156902T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6235T>G MANE Select	ENSP00000262367.5:p.Ser2079Ala
ENST00000262367.9:c.6235T>G	ENSP00000262367.5:p.Ser2079Ala
ENST00000382070.7:c.6121T>G	ENSP00000371502.3:p.Ser2041Ala
NM_001079846.1:c.6121T>G	NP_001073315.1:p.Ser2041Ala
NM_004380.2:c.6235T>G	NP_004371.2:p.Ser2079Ala
XM_005255124.3:c.6190T>G	XP_005255181.1:p.Ser2064Ala
XM_005255125.3:c.5818T>G	XP_005255182.1:p.Ser1940Ala
XM_006720848.2:c.5974T>G	XP_006720911.1:p.Ser1992Ala
XM_011522380.1:c.6181T>G	XP_011520682.1:p.Ser2061Ala
XM_011522381.1:c.5482T>G	XP_011520683.1:p.Ser1828Ala
XM_005255124.4:c.6190T>G	XP_005255181.1:p.Ser2064Ala
XM_005255125.4:c.5818T>G	XP_005255182.1:p.Ser1940Ala
XM_006720848.3:c.5974T>G	XP_006720911.1:p.Ser1992Ala
XM_011522381.2:c.5482T>G	XP_011520683.1:p.Ser1828Ala
XM_017022944.1:c.6229T>G	XP_016878433.1:p.Ser2077Ala
NM_004380.3:c.6235T>G MANE Select	NP_004371.2:p.Ser2079Ala