Canonical Allele Identifier: CA394550140

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3777760T>C (hg19) ; chr16:g.3727759T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727759T>C , CM000678.2:g.3727759T>C	GRCh38
NC_000016.9:g.3777760T>C , CM000678.1:g.3777760T>C	GRCh37
NC_000016.8:g.3717761T>C	NCBI36
NG_009873.1:g.157362A>G
NG_009873.2:g.157955A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7288A>G MANE Select	ENSP00000262367.5:p.Thr2430Ala
ENST00000262367.9:c.7288A>G	ENSP00000262367.5:p.Thr2430Ala
ENST00000382070.7:c.7174A>G	ENSP00000371502.3:p.Thr2392Ala
NM_001079846.1:c.7174A>G	NP_001073315.1:p.Thr2392Ala
NM_004380.2:c.7288A>G	NP_004371.2:p.Thr2430Ala
XM_005255124.3:c.7243A>G	XP_005255181.1:p.Thr2415Ala
XM_005255125.3:c.6871A>G	XP_005255182.1:p.Thr2291Ala
XM_006720848.2:c.7027A>G	XP_006720911.1:p.Thr2343Ala
XM_011522380.1:c.7234A>G	XP_011520682.1:p.Thr2412Ala
XM_011522381.1:c.6535A>G	XP_011520683.1:p.Thr2179Ala
XM_005255124.4:c.7243A>G	XP_005255181.1:p.Thr2415Ala
XM_005255125.4:c.6871A>G	XP_005255182.1:p.Thr2291Ala
XM_006720848.3:c.7027A>G	XP_006720911.1:p.Thr2343Ala
XM_011522381.2:c.6535A>G	XP_011520683.1:p.Thr2179Ala
XM_017022944.1:c.7282A>G	XP_016878433.1:p.Thr2428Ala
NM_004380.3:c.7288A>G MANE Select	NP_004371.2:p.Thr2430Ala