Canonical Allele Identifier: CA7869261

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729381G>A , CM000678.2:g.3729381G>A	GRCh38
NC_000016.9:g.3779382G>A , CM000678.1:g.3779382G>A	GRCh37
NC_000016.8:g.3719383G>A	NCBI36
NG_009873.1:g.155740C>T
NG_009873.2:g.156333C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5666C>T MANE Select	NP_004371.2:p.Pro1889Leu
ENST00000262367.10:c.5666C>T MANE Select	ENSP00000262367.5:p.Pro1889Leu
NM_001079846.1:c.5552C>T	NP_001073315.1:p.Pro1851Leu
NM_004380.2:c.5666C>T	NP_004371.2:p.Pro1889Leu
ENST00000262367.9:c.5666C>T	ENSP00000262367.5:p.Pro1889Leu
ENST00000382070.7:c.5552C>T	ENSP00000371502.3:p.Pro1851Leu
XM_005255124.3:c.5621C>T	XP_005255181.1:p.Pro1874Leu
XM_005255124.4:c.5621C>T	XP_005255181.1:p.Pro1874Leu
XM_005255125.3:c.5249C>T	XP_005255182.1:p.Pro1750Leu
XM_005255125.4:c.5249C>T	XP_005255182.1:p.Pro1750Leu
XM_006720848.2:c.5405C>T	XP_006720911.1:p.Pro1802Leu
XM_006720848.3:c.5405C>T	XP_006720911.1:p.Pro1802Leu
XM_011522380.1:c.5612C>T	XP_011520682.1:p.Pro1871Leu
XM_011522381.1:c.4913C>T	XP_011520683.1:p.Pro1638Leu
XM_011522381.2:c.4913C>T	XP_011520683.1:p.Pro1638Leu
XM_017022944.1:c.5660C>T	XP_016878433.1:p.Pro1887Leu