Canonical Allele Identifier: CA394565324

Gene: CREBBP

Linked Data

• dbSNP Id: rs762638591
• MyVariant Identifiers: chr16:g.3790460A>C (hg19) ; chr16:g.3740459A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740459A>C , CM000678.2:g.3740459A>C	GRCh38
NC_000016.9:g.3790460A>C , CM000678.1:g.3790460A>C	GRCh37
NC_000016.8:g.3730461A>C	NCBI36
NG_009873.1:g.144662T>G
NG_009873.2:g.145255T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4073T>G MANE Select	ENSP00000262367.5:p.Phe1358Cys
ENST00000262367.9:c.4073T>G	ENSP00000262367.5:p.Phe1358Cys
ENST00000382070.7:c.3959T>G	ENSP00000371502.3:p.Phe1320Cys
ENST00000570939.2:c.2708T>G	ENSP00000461002.2:p.Phe903Cys
ENST00000572569.1:n.537T>G
ENST00000573517.6:c.379T>G
ENST00000574740.1:n.155T>G
ENST00000576720.1:n.3010T>G
NM_001079846.1:c.3959T>G	NP_001073315.1:p.Phe1320Cys
NM_004380.2:c.4073T>G	NP_004371.2:p.Phe1358Cys
XM_005255124.3:c.4028T>G	XP_005255181.1:p.Phe1343Cys
XM_005255125.3:c.3656T>G	XP_005255182.1:p.Phe1219Cys
XM_006720848.2:c.4073T>G	XP_006720911.1:p.Phe1358Cys
XM_011522380.1:c.4019T>G	XP_011520682.1:p.Phe1340Cys
XM_011522381.1:c.3320T>G	XP_011520683.1:p.Phe1107Cys
XM_005255124.4:c.4028T>G	XP_005255181.1:p.Phe1343Cys
XM_005255125.4:c.3656T>G	XP_005255182.1:p.Phe1219Cys
XM_006720848.3:c.4073T>G	XP_006720911.1:p.Phe1358Cys
XM_011522381.2:c.3320T>G	XP_011520683.1:p.Phe1107Cys
XM_017022944.1:c.4067T>G	XP_016878433.1:p.Phe1356Cys
NM_004380.3:c.4073T>G MANE Select	NP_004371.2:p.Phe1358Cys