Canonical Allele Identifier: CA394568554

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3807819A>T (hg19) ; chr16:g.3757818A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757818A>T , CM000678.2:g.3757818A>T	GRCh38
NC_000016.9:g.3807819A>T , CM000678.1:g.3807819A>T	GRCh37
NC_000016.8:g.3747820A>T	NCBI36
NG_009873.1:g.127303T>A
NG_009873.2:g.127896T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3600T>A MANE Select	ENSP00000262367.5:p.Cys1200Ter
ENST00000262367.9:c.3600T>A	ENSP00000262367.5:p.Cys1200Ter
ENST00000382070.7:c.3486T>A	ENSP00000371502.3:p.Cys1162Ter
ENST00000570939.2:c.2205T>A	ENSP00000461002.2:p.Cys735Ter
NM_001079846.1:c.3486T>A	NP_001073315.1:p.Cys1162Ter
NM_004380.2:c.3600T>A	NP_004371.2:p.Cys1200Ter
XM_005255124.3:c.3555T>A	XP_005255181.1:p.Cys1185Ter
XM_005255125.3:c.3183T>A	XP_005255182.1:p.Cys1061Ter
XM_006720848.2:c.3600T>A	XP_006720911.1:p.Cys1200Ter
XM_011522380.1:c.3546T>A	XP_011520682.1:p.Cys1182Ter
XM_011522381.1:c.2847T>A	XP_011520683.1:p.Cys949Ter
XM_011522382.1:c.3600T>A	XP_011520684.1:p.Cys1200Ter
XM_005255124.4:c.3555T>A	XP_005255181.1:p.Cys1185Ter
XM_005255125.4:c.3183T>A	XP_005255182.1:p.Cys1061Ter
XM_006720848.3:c.3600T>A	XP_006720911.1:p.Cys1200Ter
XM_011522381.2:c.2847T>A	XP_011520683.1:p.Cys949Ter
XM_011522382.3:c.3600T>A	XP_011520684.1:p.Cys1200Ter
XM_017022944.1:c.3594T>A	XP_016878433.1:p.Cys1198Ter
NM_004380.3:c.3600T>A MANE Select	NP_004371.2:p.Cys1200Ter