Canonical Allele Identifier: CA394563695

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1388252
• ClinVar RCV Id: RCV001884465
• dbSNP Id: rs199817036
• MyVariant Identifiers: chr16:g.3786731G>A (hg19) ; chr16:g.3736730G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736730G>A , CM000678.2:g.3736730G>A	GRCh38
NC_000016.9:g.3786731G>A , CM000678.1:g.3786731G>A	GRCh37
NC_000016.8:g.3726732G>A	NCBI36
NG_009873.1:g.148391C>T
NG_009873.2:g.148984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4480C>T MANE Select	ENSP00000262367.5:p.Pro1494Ser
ENST00000262367.9:c.4480C>T	ENSP00000262367.5:p.Pro1494Ser
ENST00000382070.7:c.4366C>T	ENSP00000371502.3:p.Pro1456Ser
ENST00000570939.2:c.3115C>T	ENSP00000461002.2:p.Pro1039Ser
ENST00000571763.5:n.270C>T
ENST00000574740.1:n.301C>T
ENST00000576720.1:n.3303C>T
NM_001079846.1:c.4366C>T	NP_001073315.1:p.Pro1456Ser
NM_004380.2:c.4480C>T	NP_004371.2:p.Pro1494Ser
XM_005255124.3:c.4435C>T	XP_005255181.1:p.Pro1479Ser
XM_005255125.3:c.4063C>T	XP_005255182.1:p.Pro1355Ser
XM_006720848.2:c.4219C>T	XP_006720911.1:p.Pro1407Ser
XM_011522380.1:c.4426C>T	XP_011520682.1:p.Pro1476Ser
XM_011522381.1:c.3727C>T	XP_011520683.1:p.Pro1243Ser
XM_005255124.4:c.4435C>T	XP_005255181.1:p.Pro1479Ser
XM_005255125.4:c.4063C>T	XP_005255182.1:p.Pro1355Ser
XM_006720848.3:c.4219C>T	XP_006720911.1:p.Pro1407Ser
XM_011522381.2:c.3727C>T	XP_011520683.1:p.Pro1243Ser
XM_017022944.1:c.4474C>T	XP_016878433.1:p.Pro1492Ser
NM_004380.3:c.4480C>T MANE Select	NP_004371.2:p.Pro1494Ser