Canonical Allele Identifier: CA720733808

Gene: CREBBP

Linked Data

• dbSNP Id: rs1442777815
• MyVariant Identifiers: chr16:g.3796131T>C (hg19) ; chr16:g.3746130T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3746130T>C , CM000678.2:g.3746130T>C	GRCh38
NC_000016.9:g.3796131T>C , CM000678.1:g.3796131T>C	GRCh37
NC_000016.8:g.3736132T>C	NCBI36
NG_009873.1:g.138991A>G
NG_009873.2:g.139584A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3837-776A>G MANE Select	ENSP00000262367.5:n.3837-776A>G
ENST00000638158.1:n.58-535A>G
ENST00000262367.9:c.3837-776A>G	ENSP00000262367.5:n.3837-776A>G
ENST00000382070.7:c.3723-776A>G	ENSP00000371502.3:n.3723-776A>G
ENST00000570939.2:c.2472-776A>G	ENSP00000461002.2:n.2472-776A>G
ENST00000573517.6:c.143-776A>G
NM_001079846.1:c.3723-776A>G	NP_001073315.1:n.3723-776A>G
NM_004380.2:c.3837-776A>G	NP_004371.2:n.3837-776A>G
XM_005255124.3:c.3792-776A>G	XP_005255181.1:n.3792-776A>G
XM_005255125.3:c.3420-776A>G	XP_005255182.1:n.3420-776A>G
XM_006720848.2:c.3837-776A>G	XP_006720911.1:n.3837-776A>G
XM_011522380.1:c.3783-776A>G	XP_011520682.1:n.3783-776A>G
XM_011522381.1:c.3084-776A>G	XP_011520683.1:n.3084-776A>G
XM_011522382.1:c.3837-535A>G	XP_011520684.1:n.3837-535A>G
XM_005255124.4:c.3792-776A>G	XP_005255181.1:n.3792-776A>G
XM_005255125.4:c.3420-776A>G	XP_005255182.1:n.3420-776A>G
XM_006720848.3:c.3837-776A>G	XP_006720911.1:n.3837-776A>G
XM_011522381.2:c.3084-776A>G	XP_011520683.1:n.3084-776A>G
XM_011522382.3:c.3837-535A>G	XP_011520684.1:n.3837-535A>G
XM_017022944.1:c.3831-776A>G	XP_016878433.1:n.3831-776A>G
NM_004380.3:c.3837-776A>G MANE Select	NP_004371.2:n.3837-776A>G