Canonical Allele Identifier: CA394550708

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778005G>C (hg19) ; chr16:g.3728004G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728004G>C , CM000678.2:g.3728004G>C	GRCh38
NC_000016.9:g.3778005G>C , CM000678.1:g.3778005G>C	GRCh37
NC_000016.8:g.3718006G>C	NCBI36
NG_009873.1:g.157117C>G
NG_009873.2:g.157710C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7043C>G MANE Select	ENSP00000262367.5:p.Pro2348Arg
ENST00000262367.9:c.7043C>G	ENSP00000262367.5:p.Pro2348Arg
ENST00000382070.7:c.6929C>G	ENSP00000371502.3:p.Pro2310Arg
NM_001079846.1:c.6929C>G	NP_001073315.1:p.Pro2310Arg
NM_004380.2:c.7043C>G	NP_004371.2:p.Pro2348Arg
XM_005255124.3:c.6998C>G	XP_005255181.1:p.Pro2333Arg
XM_005255125.3:c.6626C>G	XP_005255182.1:p.Pro2209Arg
XM_006720848.2:c.6782C>G	XP_006720911.1:p.Pro2261Arg
XM_011522380.1:c.6989C>G	XP_011520682.1:p.Pro2330Arg
XM_011522381.1:c.6290C>G	XP_011520683.1:p.Pro2097Arg
XM_005255124.4:c.6998C>G	XP_005255181.1:p.Pro2333Arg
XM_005255125.4:c.6626C>G	XP_005255182.1:p.Pro2209Arg
XM_006720848.3:c.6782C>G	XP_006720911.1:p.Pro2261Arg
XM_011522381.2:c.6290C>G	XP_011520683.1:p.Pro2097Arg
XM_017022944.1:c.7037C>G	XP_016878433.1:p.Pro2346Arg
NM_004380.3:c.7043C>G MANE Select	NP_004371.2:p.Pro2348Arg