Canonical Allele Identifier: CA394564563

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3738650C>A , CM000678.2:g.3738650C>A	GRCh38
NC_000016.9:g.3788651C>A , CM000678.1:g.3788651C>A	GRCh37
NC_000016.8:g.3728652C>A	NCBI36
NG_009873.1:g.146471G>T
NG_009873.2:g.147064G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4303G>T MANE Select	NP_004371.2:p.Asp1435Tyr
ENST00000262367.10:c.4303G>T MANE Select	ENSP00000262367.5:p.Asp1435Tyr
NM_001079846.1:c.4189G>T	NP_001073315.1:p.Asp1397Tyr
NM_004380.2:c.4303G>T	NP_004371.2:p.Asp1435Tyr
ENST00000262367.9:c.4303G>T	ENSP00000262367.5:p.Asp1435Tyr
ENST00000382070.7:c.4189G>T	ENSP00000371502.3:p.Asp1397Tyr
ENST00000570939.2:c.2938G>T	ENSP00000461002.2:p.Asp980Tyr
ENST00000574740.1:n.215+1749G>T
ENST00000576720.1:n.3217+928G>T
XM_005255124.3:c.4258G>T	XP_005255181.1:p.Asp1420Tyr
XM_005255124.4:c.4258G>T	XP_005255181.1:p.Asp1420Tyr
XM_005255125.3:c.3886G>T	XP_005255182.1:p.Asp1296Tyr
XM_005255125.4:c.3886G>T	XP_005255182.1:p.Asp1296Tyr
XM_006720848.2:c.4133+1749G>T	XP_006720911.1:n.4133+1749G>T
XM_006720848.3:c.4133+1749G>T	XP_006720911.1:n.4133+1749G>T
XM_011522380.1:c.4249G>T	XP_011520682.1:p.Asp1417Tyr
XM_011522381.1:c.3550G>T	XP_011520683.1:p.Asp1184Tyr
XM_011522381.2:c.3550G>T	XP_011520683.1:p.Asp1184Tyr
XM_017022944.1:c.4297G>T	XP_016878433.1:p.Asp1433Tyr