Canonical Allele Identifier: CA394563556

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329435
• COSMIC: COSM88744
• MyVariant Identifiers: chr16:g.3786704A>G (hg19) ; chr16:g.3736703A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736703A>G , CM000678.2:g.3736703A>G	GRCh38
NC_000016.9:g.3786704A>G , CM000678.1:g.3786704A>G	GRCh37
NC_000016.8:g.3726705A>G	NCBI36
NG_009873.1:g.148418T>C
NG_009873.2:g.149011T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4507T>C MANE Select	ENSP00000262367.5:p.Tyr1503His
ENST00000262367.9:c.4507T>C	ENSP00000262367.5:p.Tyr1503His
ENST00000382070.7:c.4393T>C	ENSP00000371502.3:p.Tyr1465His
ENST00000570939.2:c.3142T>C	ENSP00000461002.2:p.Tyr1048His
ENST00000571763.5:n.297T>C
ENST00000574740.1:n.328T>C
ENST00000576720.1:n.3330T>C
NM_001079846.1:c.4393T>C	NP_001073315.1:p.Tyr1465His
NM_004380.2:c.4507T>C	NP_004371.2:p.Tyr1503His
XM_005255124.3:c.4462T>C	XP_005255181.1:p.Tyr1488His
XM_005255125.3:c.4090T>C	XP_005255182.1:p.Tyr1364His
XM_006720848.2:c.4246T>C	XP_006720911.1:p.Tyr1416His
XM_011522380.1:c.4453T>C	XP_011520682.1:p.Tyr1485His
XM_011522381.1:c.3754T>C	XP_011520683.1:p.Tyr1252His
XM_005255124.4:c.4462T>C	XP_005255181.1:p.Tyr1488His
XM_005255125.4:c.4090T>C	XP_005255182.1:p.Tyr1364His
XM_006720848.3:c.4246T>C	XP_006720911.1:p.Tyr1416His
XM_011522381.2:c.3754T>C	XP_011520683.1:p.Tyr1252His
XM_017022944.1:c.4501T>C	XP_016878433.1:p.Tyr1501His
NM_004380.3:c.4507T>C MANE Select	NP_004371.2:p.Tyr1503His