Canonical Allele Identifier: CA394553107

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3773907C>G , CM000678.2:g.3773907C>G	GRCh38
NC_000016.9:g.3823908C>G , CM000678.1:g.3823908C>G	GRCh37
NC_000016.8:g.3763909C>G	NCBI36
NG_009873.1:g.111214G>C
NG_009873.2:g.111807G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2307G>C MANE Select	NP_004371.2:p.Met769Ile
ENST00000262367.10:c.2307G>C MANE Select	ENSP00000262367.5:p.Met769Ile
NM_001079846.1:c.2193G>C	NP_001073315.1:p.Met731Ile
NM_004380.2:c.2307G>C	NP_004371.2:p.Met769Ile
ENST00000262367.9:c.2307G>C	ENSP00000262367.5:p.Met769Ile
ENST00000382070.7:c.2193G>C	ENSP00000371502.3:p.Met731Ile
ENST00000570939.2:c.912G>C	ENSP00000461002.2:p.Met304Ile
ENST00000571826.5:c.356G>C
ENST00000572134.1:c.575G>C
ENST00000575237.2:n.202G>C
XM_005255124.3:c.2262G>C	XP_005255181.1:p.Met754Ile
XM_005255124.4:c.2262G>C	XP_005255181.1:p.Met754Ile
XM_005255125.3:c.2307G>C	XP_005255182.1:p.Met769Ile
XM_005255125.4:c.2307G>C	XP_005255182.1:p.Met769Ile
XM_006720848.2:c.2307G>C	XP_006720911.1:p.Met769Ile
XM_006720848.3:c.2307G>C	XP_006720911.1:p.Met769Ile
XM_011522380.1:c.2253G>C	XP_011520682.1:p.Met751Ile
XM_011522381.1:c.1554G>C	XP_011520683.1:p.Met518Ile
XM_011522381.2:c.1554G>C	XP_011520683.1:p.Met518Ile
XM_011522382.1:c.2307G>C	XP_011520684.1:p.Met769Ile
XM_011522382.3:c.2307G>C	XP_011520684.1:p.Met769Ile
XM_017022944.1:c.2307G>C	XP_016878433.1:p.Met769Ile