Canonical Allele Identifier: CA394565502

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3790539T>C (hg19) ; chr16:g.3740538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740538T>C , CM000678.2:g.3740538T>C	GRCh38
NC_000016.9:g.3790539T>C , CM000678.1:g.3790539T>C	GRCh37
NC_000016.8:g.3730540T>C	NCBI36
NG_009873.1:g.144583A>G
NG_009873.2:g.145176A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3994A>G MANE Select	ENSP00000262367.5:p.Thr1332Ala
ENST00000262367.9:c.3994A>G	ENSP00000262367.5:p.Thr1332Ala
ENST00000382070.7:c.3880A>G	ENSP00000371502.3:p.Thr1294Ala
ENST00000570939.2:c.2629A>G	ENSP00000461002.2:p.Thr877Ala
ENST00000572569.1:n.458A>G
ENST00000573517.6:c.300A>G
ENST00000574740.1:n.76A>G
ENST00000576720.1:n.2931A>G
NM_001079846.1:c.3880A>G	NP_001073315.1:p.Thr1294Ala
NM_004380.2:c.3994A>G	NP_004371.2:p.Thr1332Ala
XM_005255124.3:c.3949A>G	XP_005255181.1:p.Thr1317Ala
XM_005255125.3:c.3577A>G	XP_005255182.1:p.Thr1193Ala
XM_006720848.2:c.3994A>G	XP_006720911.1:p.Thr1332Ala
XM_011522380.1:c.3940A>G	XP_011520682.1:p.Thr1314Ala
XM_011522381.1:c.3241A>G	XP_011520683.1:p.Thr1081Ala
XM_005255124.4:c.3949A>G	XP_005255181.1:p.Thr1317Ala
XM_005255125.4:c.3577A>G	XP_005255182.1:p.Thr1193Ala
XM_006720848.3:c.3994A>G	XP_006720911.1:p.Thr1332Ala
XM_011522381.2:c.3241A>G	XP_011520683.1:p.Thr1081Ala
XM_017022944.1:c.3988A>G	XP_016878433.1:p.Thr1330Ala
NM_004380.3:c.3994A>G MANE Select	NP_004371.2:p.Thr1332Ala