Canonical Allele Identifier: CA394563856

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786754C>A (hg19) ; chr16:g.3736753C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736753C>A , CM000678.2:g.3736753C>A	GRCh38
NC_000016.9:g.3786754C>A , CM000678.1:g.3786754C>A	GRCh37
NC_000016.8:g.3726755C>A	NCBI36
NG_009873.1:g.148368G>T
NG_009873.2:g.148961G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4457G>T MANE Select	ENSP00000262367.5:p.Cys1486Phe
ENST00000262367.9:c.4457G>T	ENSP00000262367.5:p.Cys1486Phe
ENST00000382070.7:c.4343G>T	ENSP00000371502.3:p.Cys1448Phe
ENST00000570939.2:c.3092G>T	ENSP00000461002.2:p.Cys1031Phe
ENST00000571763.5:n.247G>T
ENST00000574740.1:n.278G>T
ENST00000576720.1:n.3280G>T
NM_001079846.1:c.4343G>T	NP_001073315.1:p.Cys1448Phe
NM_004380.2:c.4457G>T	NP_004371.2:p.Cys1486Phe
XM_005255124.3:c.4412G>T	XP_005255181.1:p.Cys1471Phe
XM_005255125.3:c.4040G>T	XP_005255182.1:p.Cys1347Phe
XM_006720848.2:c.4196G>T	XP_006720911.1:p.Cys1399Phe
XM_011522380.1:c.4403G>T	XP_011520682.1:p.Cys1468Phe
XM_011522381.1:c.3704G>T	XP_011520683.1:p.Cys1235Phe
XM_005255124.4:c.4412G>T	XP_005255181.1:p.Cys1471Phe
XM_005255125.4:c.4040G>T	XP_005255182.1:p.Cys1347Phe
XM_006720848.3:c.4196G>T	XP_006720911.1:p.Cys1399Phe
XM_011522381.2:c.3704G>T	XP_011520683.1:p.Cys1235Phe
XM_017022944.1:c.4451G>T	XP_016878433.1:p.Cys1484Phe
NM_004380.3:c.4457G>T MANE Select	NP_004371.2:p.Cys1486Phe