Canonical Allele Identifier: CA271401

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740510C>G , CM000678.2:g.3740510C>G	GRCh38
NC_000016.9:g.3790511C>G , CM000678.1:g.3790511C>G	GRCh37
NC_000016.8:g.3730512C>G	NCBI36
NG_009873.1:g.144611G>C
NG_009873.2:g.145204G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4022G>C MANE Select	ENSP00000262367.5:p.Arg1341Pro
ENST00000262367.9:c.4022G>C	ENSP00000262367.5:p.Arg1341Pro
ENST00000382070.7:c.3908G>C	ENSP00000371502.3:p.Arg1303Pro
ENST00000570939.2:c.2657G>C	ENSP00000461002.2:p.Arg886Pro
ENST00000572569.1:n.486G>C
ENST00000573517.6:c.328G>C
ENST00000574740.1:n.104G>C
ENST00000576720.1:n.2959G>C
NM_001079846.1:c.3908G>C	NP_001073315.1:p.Arg1303Pro
NM_004380.2:c.4022G>C	NP_004371.2:p.Arg1341Pro
XM_005255124.3:c.3977G>C	XP_005255181.1:p.Arg1326Pro
XM_005255125.3:c.3605G>C	XP_005255182.1:p.Arg1202Pro
XM_006720848.2:c.4022G>C	XP_006720911.1:p.Arg1341Pro
XM_011522380.1:c.3968G>C	XP_011520682.1:p.Arg1323Pro
XM_011522381.1:c.3269G>C	XP_011520683.1:p.Arg1090Pro
XM_005255124.4:c.3977G>C	XP_005255181.1:p.Arg1326Pro
XM_005255125.4:c.3605G>C	XP_005255182.1:p.Arg1202Pro
XM_006720848.3:c.4022G>C	XP_006720911.1:p.Arg1341Pro
XM_011522381.2:c.3269G>C	XP_011520683.1:p.Arg1090Pro
XM_017022944.1:c.4016G>C	XP_016878433.1:p.Arg1339Pro
NM_004380.3:c.4022G>C MANE Select	NP_004371.2:p.Arg1341Pro