Canonical Allele Identifier: CA233865

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770600C>T , CM000678.2:g.3770600C>T	GRCh38
NC_000016.9:g.3820601C>T , CM000678.1:g.3820601C>T	GRCh37
NC_000016.8:g.3760602C>T	NCBI36
NG_009873.1:g.114521G>A
NG_009873.2:g.115114G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2850G>A MANE Select	NP_004371.2:p.Thr950=
ENST00000262367.10:c.2850G>A MANE Select	ENSP00000262367.5:p.Thr950=
NM_001079846.1:c.2736G>A	NP_001073315.1:p.Thr912=
NM_004380.2:c.2850G>A	NP_004371.2:p.Thr950=
ENST00000262367.9:c.2850G>A	ENSP00000262367.5:p.Thr950=
ENST00000382070.7:c.2736G>A	ENSP00000371502.3:p.Thr912=
ENST00000570939.2:c.1455G>A	ENSP00000461002.2:p.Thr485=
ENST00000573672.1:n.104G>A
XM_005255124.3:c.2805G>A	XP_005255181.1:p.Thr935=
XM_005255124.4:c.2805G>A	XP_005255181.1:p.Thr935=
XM_005255125.3:c.2464-1247G>A	XP_005255182.1:n.2464-1247G>A
XM_005255125.4:c.2464-1247G>A	XP_005255182.1:n.2464-1247G>A
XM_006720848.2:c.2850G>A	XP_006720911.1:p.Thr950=
XM_006720848.3:c.2850G>A	XP_006720911.1:p.Thr950=
XM_011522380.1:c.2796G>A	XP_011520682.1:p.Thr932=
XM_011522381.1:c.2097G>A	XP_011520683.1:p.Thr699=
XM_011522381.2:c.2097G>A	XP_011520683.1:p.Thr699=
XM_011522382.1:c.2850G>A	XP_011520684.1:p.Thr950=
XM_011522382.3:c.2850G>A	XP_011520684.1:p.Thr950=
XM_017022944.1:c.2844G>A	XP_016878433.1:p.Thr948=