Canonical Allele Identifier: CA394554600

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2502788
• ClinVar RCV Id: RCV003229461
• dbSNP Id: rs2151306708
• MyVariant Identifiers: chr16:g.3779034G>C (hg19) ; chr16:g.3729033G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729033G>C , CM000678.2:g.3729033G>C	GRCh38
NC_000016.9:g.3779034G>C , CM000678.1:g.3779034G>C	GRCh37
NC_000016.8:g.3719035G>C	NCBI36
NG_009873.1:g.156088C>G
NG_009873.2:g.156681C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6014C>G MANE Select	ENSP00000262367.5:p.Pro2005Arg
ENST00000262367.9:c.6014C>G	ENSP00000262367.5:p.Pro2005Arg
ENST00000382070.7:c.5900C>G	ENSP00000371502.3:p.Pro1967Arg
NM_001079846.1:c.5900C>G	NP_001073315.1:p.Pro1967Arg
NM_004380.2:c.6014C>G	NP_004371.2:p.Pro2005Arg
XM_005255124.3:c.5969C>G	XP_005255181.1:p.Pro1990Arg
XM_005255125.3:c.5597C>G	XP_005255182.1:p.Pro1866Arg
XM_006720848.2:c.5753C>G	XP_006720911.1:p.Pro1918Arg
XM_011522380.1:c.5960C>G	XP_011520682.1:p.Pro1987Arg
XM_011522381.1:c.5261C>G	XP_011520683.1:p.Pro1754Arg
XM_005255124.4:c.5969C>G	XP_005255181.1:p.Pro1990Arg
XM_005255125.4:c.5597C>G	XP_005255182.1:p.Pro1866Arg
XM_006720848.3:c.5753C>G	XP_006720911.1:p.Pro1918Arg
XM_011522381.2:c.5261C>G	XP_011520683.1:p.Pro1754Arg
XM_017022944.1:c.6008C>G	XP_016878433.1:p.Pro2003Arg
NM_004380.3:c.6014C>G MANE Select	NP_004371.2:p.Pro2005Arg