Canonical Allele Identifier: CA394563551

Gene: CREBBP

Linked Data

• dbSNP Id: rs587783497
• gnomAD v4: 16-3736702-T-G
• COSMIC: COSM1161162
• MyVariant Identifiers: chr16:g.3786703T>G (hg19) ; chr16:g.3736702T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4508A>C MANE Select	ENSP00000262367.5:p.Tyr1503Ser
ENST00000262367.9:c.4508A>C	ENSP00000262367.5:p.Tyr1503Ser
ENST00000382070.7:c.4394A>C	ENSP00000371502.3:p.Tyr1465Ser
ENST00000570939.2:c.3143A>C	ENSP00000461002.2:p.Tyr1048Ser
ENST00000571763.5:n.298A>C
ENST00000574740.1:n.329A>C
ENST00000576720.1:n.3331A>C
NM_001079846.1:c.4394A>C	NP_001073315.1:p.Tyr1465Ser
NM_004380.2:c.4508A>C	NP_004371.2:p.Tyr1503Ser
XM_005255124.3:c.4463A>C	XP_005255181.1:p.Tyr1488Ser
XM_005255125.3:c.4091A>C	XP_005255182.1:p.Tyr1364Ser
XM_006720848.2:c.4247A>C	XP_006720911.1:p.Tyr1416Ser
XM_011522380.1:c.4454A>C	XP_011520682.1:p.Tyr1485Ser
XM_011522381.1:c.3755A>C	XP_011520683.1:p.Tyr1252Ser
XM_005255124.4:c.4463A>C	XP_005255181.1:p.Tyr1488Ser
XM_005255125.4:c.4091A>C	XP_005255182.1:p.Tyr1364Ser
XM_006720848.3:c.4247A>C	XP_006720911.1:p.Tyr1416Ser
XM_011522381.2:c.3755A>C	XP_011520683.1:p.Tyr1252Ser
XM_017022944.1:c.4502A>C	XP_016878433.1:p.Tyr1501Ser
NM_004380.3:c.4508A>C MANE Select	NP_004371.2:p.Tyr1503Ser