Canonical Allele Identifier: CA394551884

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770945C>G , CM000678.2:g.3770945C>G	GRCh38
NC_000016.9:g.3820946C>G , CM000678.1:g.3820946C>G	GRCh37
NC_000016.8:g.3760947C>G	NCBI36
NG_009873.1:g.114176G>C
NG_009873.2:g.114769G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2505G>C MANE Select	NP_004371.2:p.Met835Ile
ENST00000262367.10:c.2505G>C MANE Select	ENSP00000262367.5:p.Met835Ile
NM_001079846.1:c.2391G>C	NP_001073315.1:p.Met797Ile
NM_004380.2:c.2505G>C	NP_004371.2:p.Met835Ile
ENST00000262367.9:c.2505G>C	ENSP00000262367.5:p.Met835Ile
ENST00000382070.7:c.2391G>C	ENSP00000371502.3:p.Met797Ile
ENST00000570939.2:c.1110G>C	ENSP00000461002.2:p.Met370Ile
XM_005255124.3:c.2460G>C	XP_005255181.1:p.Met820Ile
XM_005255124.4:c.2460G>C	XP_005255181.1:p.Met820Ile
XM_005255125.3:c.2464-1592G>C	XP_005255182.1:n.2464-1592G>C
XM_005255125.4:c.2464-1592G>C	XP_005255182.1:n.2464-1592G>C
XM_006720848.2:c.2505G>C	XP_006720911.1:p.Met835Ile
XM_006720848.3:c.2505G>C	XP_006720911.1:p.Met835Ile
XM_011522380.1:c.2451G>C	XP_011520682.1:p.Met817Ile
XM_011522381.1:c.1752G>C	XP_011520683.1:p.Met584Ile
XM_011522381.2:c.1752G>C	XP_011520683.1:p.Met584Ile
XM_011522382.1:c.2505G>C	XP_011520684.1:p.Met835Ile
XM_011522382.3:c.2505G>C	XP_011520684.1:p.Met835Ile
XM_017022944.1:c.2499G>C	XP_016878433.1:p.Met833Ile