Canonical Allele Identifier: CA394550396

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3777880T>C (hg19) ; chr16:g.3727879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727879T>C , CM000678.2:g.3727879T>C	GRCh38
NC_000016.9:g.3777880T>C , CM000678.1:g.3777880T>C	GRCh37
NC_000016.8:g.3717881T>C	NCBI36
NG_009873.1:g.157242A>G
NG_009873.2:g.157835A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7168A>G MANE Select	ENSP00000262367.5:p.Thr2390Ala
ENST00000262367.9:c.7168A>G	ENSP00000262367.5:p.Thr2390Ala
ENST00000382070.7:c.7054A>G	ENSP00000371502.3:p.Thr2352Ala
NM_001079846.1:c.7054A>G	NP_001073315.1:p.Thr2352Ala
NM_004380.2:c.7168A>G	NP_004371.2:p.Thr2390Ala
XM_005255124.3:c.7123A>G	XP_005255181.1:p.Thr2375Ala
XM_005255125.3:c.6751A>G	XP_005255182.1:p.Thr2251Ala
XM_006720848.2:c.6907A>G	XP_006720911.1:p.Thr2303Ala
XM_011522380.1:c.7114A>G	XP_011520682.1:p.Thr2372Ala
XM_011522381.1:c.6415A>G	XP_011520683.1:p.Thr2139Ala
XM_005255124.4:c.7123A>G	XP_005255181.1:p.Thr2375Ala
XM_005255125.4:c.6751A>G	XP_005255182.1:p.Thr2251Ala
XM_006720848.3:c.6907A>G	XP_006720911.1:p.Thr2303Ala
XM_011522381.2:c.6415A>G	XP_011520683.1:p.Thr2139Ala
XM_017022944.1:c.7162A>G	XP_016878433.1:p.Thr2388Ala
NM_004380.3:c.7168A>G MANE Select	NP_004371.2:p.Thr2390Ala