Canonical Allele Identifier: CA271419

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 158377
• ClinVar RCV Id: RCV000145757
• dbSNP Id: rs587783497
• MyVariant Identifiers: chr16:g.3786703T>C (hg19) ; chr16:g.3736702T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736702T>C , CM000678.2:g.3736702T>C	GRCh38
NC_000016.9:g.3786703T>C , CM000678.1:g.3786703T>C	GRCh37
NC_000016.8:g.3726704T>C	NCBI36
NG_009873.1:g.148419A>G
NG_009873.2:g.149012A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4508A>G MANE Select	ENSP00000262367.5:p.Tyr1503Cys
ENST00000262367.9:c.4508A>G	ENSP00000262367.5:p.Tyr1503Cys
ENST00000382070.7:c.4394A>G	ENSP00000371502.3:p.Tyr1465Cys
ENST00000570939.2:c.3143A>G	ENSP00000461002.2:p.Tyr1048Cys
ENST00000571763.5:n.298A>G
ENST00000574740.1:n.329A>G
ENST00000576720.1:n.3331A>G
NM_001079846.1:c.4394A>G	NP_001073315.1:p.Tyr1465Cys
NM_004380.2:c.4508A>G	NP_004371.2:p.Tyr1503Cys
XM_005255124.3:c.4463A>G	XP_005255181.1:p.Tyr1488Cys
XM_005255125.3:c.4091A>G	XP_005255182.1:p.Tyr1364Cys
XM_006720848.2:c.4247A>G	XP_006720911.1:p.Tyr1416Cys
XM_011522380.1:c.4454A>G	XP_011520682.1:p.Tyr1485Cys
XM_011522381.1:c.3755A>G	XP_011520683.1:p.Tyr1252Cys
XM_005255124.4:c.4463A>G	XP_005255181.1:p.Tyr1488Cys
XM_005255125.4:c.4091A>G	XP_005255182.1:p.Tyr1364Cys
XM_006720848.3:c.4247A>G	XP_006720911.1:p.Tyr1416Cys
XM_011522381.2:c.3755A>G	XP_011520683.1:p.Tyr1252Cys
XM_017022944.1:c.4502A>G	XP_016878433.1:p.Tyr1501Cys
NM_004380.3:c.4508A>G MANE Select	NP_004371.2:p.Tyr1503Cys