Canonical Allele Identifier: CA7869177

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728910G>A , CM000678.2:g.3728910G>A	GRCh38
NC_000016.9:g.3778911G>A , CM000678.1:g.3778911G>A	GRCh37
NC_000016.8:g.3718912G>A	NCBI36
NG_009873.1:g.156211C>T
NG_009873.2:g.156804C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6137C>T MANE Select	NP_004371.2:p.Ala2046Val
ENST00000262367.10:c.6137C>T MANE Select	ENSP00000262367.5:p.Ala2046Val
NM_001079846.1:c.6023C>T	NP_001073315.1:p.Ala2008Val
NM_004380.2:c.6137C>T	NP_004371.2:p.Ala2046Val
ENST00000262367.9:c.6137C>T	ENSP00000262367.5:p.Ala2046Val
ENST00000382070.7:c.6023C>T	ENSP00000371502.3:p.Ala2008Val
XM_005255124.3:c.6092C>T	XP_005255181.1:p.Ala2031Val
XM_005255124.4:c.6092C>T	XP_005255181.1:p.Ala2031Val
XM_005255125.3:c.5720C>T	XP_005255182.1:p.Ala1907Val
XM_005255125.4:c.5720C>T	XP_005255182.1:p.Ala1907Val
XM_006720848.2:c.5876C>T	XP_006720911.1:p.Ala1959Val
XM_006720848.3:c.5876C>T	XP_006720911.1:p.Ala1959Val
XM_011522380.1:c.6083C>T	XP_011520682.1:p.Ala2028Val
XM_011522381.1:c.5384C>T	XP_011520683.1:p.Ala1795Val
XM_011522381.2:c.5384C>T	XP_011520683.1:p.Ala1795Val
XM_017022944.1:c.6131C>T	XP_016878433.1:p.Ala2044Val