Canonical Allele Identifier: CA394563689

Gene: CREBBP

Linked Data

• dbSNP Id: rs398124147
• MyVariant Identifiers: chr16:g.3786730G>A (hg19) ; chr16:g.3736729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736729G>A , CM000678.2:g.3736729G>A	GRCh38
NC_000016.9:g.3786730G>A , CM000678.1:g.3786730G>A	GRCh37
NC_000016.8:g.3726731G>A	NCBI36
NG_009873.1:g.148392C>T
NG_009873.2:g.148985C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4481C>T MANE Select	ENSP00000262367.5:p.Pro1494Leu
ENST00000262367.9:c.4481C>T	ENSP00000262367.5:p.Pro1494Leu
ENST00000382070.7:c.4367C>T	ENSP00000371502.3:p.Pro1456Leu
ENST00000570939.2:c.3116C>T	ENSP00000461002.2:p.Pro1039Leu
ENST00000571763.5:n.271C>T
ENST00000574740.1:n.302C>T
ENST00000576720.1:n.3304C>T
NM_001079846.1:c.4367C>T	NP_001073315.1:p.Pro1456Leu
NM_004380.2:c.4481C>T	NP_004371.2:p.Pro1494Leu
XM_005255124.3:c.4436C>T	XP_005255181.1:p.Pro1479Leu
XM_005255125.3:c.4064C>T	XP_005255182.1:p.Pro1355Leu
XM_006720848.2:c.4220C>T	XP_006720911.1:p.Pro1407Leu
XM_011522380.1:c.4427C>T	XP_011520682.1:p.Pro1476Leu
XM_011522381.1:c.3728C>T	XP_011520683.1:p.Pro1243Leu
XM_005255124.4:c.4436C>T	XP_005255181.1:p.Pro1479Leu
XM_005255125.4:c.4064C>T	XP_005255182.1:p.Pro1355Leu
XM_006720848.3:c.4220C>T	XP_006720911.1:p.Pro1407Leu
XM_011522381.2:c.3728C>T	XP_011520683.1:p.Pro1243Leu
XM_017022944.1:c.4475C>T	XP_016878433.1:p.Pro1492Leu
NM_004380.3:c.4481C>T MANE Select	NP_004371.2:p.Pro1494Leu