Canonical Allele Identifier: CA394550609

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3777978T>C (hg19) ; chr16:g.3727977T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727977T>C , CM000678.2:g.3727977T>C	GRCh38
NC_000016.9:g.3777978T>C , CM000678.1:g.3777978T>C	GRCh37
NC_000016.8:g.3717979T>C	NCBI36
NG_009873.1:g.157144A>G
NG_009873.2:g.157737A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7070A>G MANE Select	ENSP00000262367.5:p.Gln2357Arg
ENST00000262367.9:c.7070A>G	ENSP00000262367.5:p.Gln2357Arg
ENST00000382070.7:c.6956A>G	ENSP00000371502.3:p.Gln2319Arg
NM_001079846.1:c.6956A>G	NP_001073315.1:p.Gln2319Arg
NM_004380.2:c.7070A>G	NP_004371.2:p.Gln2357Arg
XM_005255124.3:c.7025A>G	XP_005255181.1:p.Gln2342Arg
XM_005255125.3:c.6653A>G	XP_005255182.1:p.Gln2218Arg
XM_006720848.2:c.6809A>G	XP_006720911.1:p.Gln2270Arg
XM_011522380.1:c.7016A>G	XP_011520682.1:p.Gln2339Arg
XM_011522381.1:c.6317A>G	XP_011520683.1:p.Gln2106Arg
XM_005255124.4:c.7025A>G	XP_005255181.1:p.Gln2342Arg
XM_005255125.4:c.6653A>G	XP_005255182.1:p.Gln2218Arg
XM_006720848.3:c.6809A>G	XP_006720911.1:p.Gln2270Arg
XM_011522381.2:c.6317A>G	XP_011520683.1:p.Gln2106Arg
XM_017022944.1:c.7064A>G	XP_016878433.1:p.Gln2355Arg
NM_004380.3:c.7070A>G MANE Select	NP_004371.2:p.Gln2357Arg