Canonical Allele Identifier: CA394566745

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3745291G>C , CM000678.2:g.3745291G>C	GRCh38
NC_000016.9:g.3795292G>C , CM000678.1:g.3795292G>C	GRCh37
NC_000016.8:g.3735293G>C	NCBI36
NG_009873.1:g.139830C>G
NG_009873.2:g.140423C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3900C>G MANE Select	ENSP00000262367.5:p.Ile1300Met
ENST00000262367.9:c.3900C>G	ENSP00000262367.5:p.Ile1300Met
ENST00000382070.7:c.3786C>G	ENSP00000371502.3:p.Ile1262Met
ENST00000570939.2:c.2535C>G	ENSP00000461002.2:p.Ile845Met
ENST00000572569.1:n.364C>G
ENST00000573517.6:c.206C>G
NM_001079846.1:c.3786C>G	NP_001073315.1:p.Ile1262Met
NM_004380.2:c.3900C>G	NP_004371.2:p.Ile1300Met
XM_005255124.3:c.3855C>G	XP_005255181.1:p.Ile1285Met
XM_005255125.3:c.3483C>G	XP_005255182.1:p.Ile1161Met
XM_006720848.2:c.3900C>G	XP_006720911.1:p.Ile1300Met
XM_011522380.1:c.3846C>G	XP_011520682.1:p.Ile1282Met
XM_011522381.1:c.3147C>G	XP_011520683.1:p.Ile1049Met
XM_005255124.4:c.3855C>G	XP_005255181.1:p.Ile1285Met
XM_005255125.4:c.3483C>G	XP_005255182.1:p.Ile1161Met
XM_006720848.3:c.3900C>G	XP_006720911.1:p.Ile1300Met
XM_011522381.2:c.3147C>G	XP_011520683.1:p.Ile1049Met
XM_017022944.1:c.3894C>G	XP_016878433.1:p.Ile1298Met
NM_004380.3:c.3900C>G MANE Select	NP_004371.2:p.Ile1300Met