Canonical Allele Identifier: CA394555912

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729439C>G , CM000678.2:g.3729439C>G	GRCh38
NC_000016.9:g.3779440C>G , CM000678.1:g.3779440C>G	GRCh37
NC_000016.8:g.3719441C>G	NCBI36
NG_009873.1:g.155682G>C
NG_009873.2:g.156275G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5608G>C MANE Select	NP_004371.2:p.Ala1870Pro
ENST00000262367.10:c.5608G>C MANE Select	ENSP00000262367.5:p.Ala1870Pro
NM_001079846.1:c.5494G>C	NP_001073315.1:p.Ala1832Pro
NM_004380.2:c.5608G>C	NP_004371.2:p.Ala1870Pro
ENST00000262367.9:c.5608G>C	ENSP00000262367.5:p.Ala1870Pro
ENST00000382070.7:c.5494G>C	ENSP00000371502.3:p.Ala1832Pro
XM_005255124.3:c.5563G>C	XP_005255181.1:p.Ala1855Pro
XM_005255124.4:c.5563G>C	XP_005255181.1:p.Ala1855Pro
XM_005255125.3:c.5191G>C	XP_005255182.1:p.Ala1731Pro
XM_005255125.4:c.5191G>C	XP_005255182.1:p.Ala1731Pro
XM_006720848.2:c.5347G>C	XP_006720911.1:p.Ala1783Pro
XM_006720848.3:c.5347G>C	XP_006720911.1:p.Ala1783Pro
XM_011522380.1:c.5554G>C	XP_011520682.1:p.Ala1852Pro
XM_011522381.1:c.4855G>C	XP_011520683.1:p.Ala1619Pro
XM_011522381.2:c.4855G>C	XP_011520683.1:p.Ala1619Pro
XM_017022944.1:c.5602G>C	XP_016878433.1:p.Ala1868Pro