Canonical Allele Identifier: CA394563265

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329108
• COSMIC: COSM4060707
• MyVariant Identifiers: chr16:g.3786655T>C (hg19) ; chr16:g.3736654T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736654T>C , CM000678.2:g.3736654T>C	GRCh38
NC_000016.9:g.3786655T>C , CM000678.1:g.3786655T>C	GRCh37
NC_000016.8:g.3726656T>C	NCBI36
NG_009873.1:g.148467A>G
NG_009873.2:g.149060A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4556A>G MANE Select	ENSP00000262367.5:p.Tyr1519Cys
ENST00000262367.9:c.4556A>G	ENSP00000262367.5:p.Tyr1519Cys
ENST00000382070.7:c.4442A>G	ENSP00000371502.3:p.Tyr1481Cys
ENST00000570939.2:c.3191A>G	ENSP00000461002.2:p.Tyr1064Cys
ENST00000571763.5:n.346A>G
ENST00000574740.1:n.377A>G
ENST00000576720.1:n.3379A>G
NM_001079846.1:c.4442A>G	NP_001073315.1:p.Tyr1481Cys
NM_004380.2:c.4556A>G	NP_004371.2:p.Tyr1519Cys
XM_005255124.3:c.4511A>G	XP_005255181.1:p.Tyr1504Cys
XM_005255125.3:c.4139A>G	XP_005255182.1:p.Tyr1380Cys
XM_006720848.2:c.4295A>G	XP_006720911.1:p.Tyr1432Cys
XM_011522380.1:c.4502A>G	XP_011520682.1:p.Tyr1501Cys
XM_011522381.1:c.3803A>G	XP_011520683.1:p.Tyr1268Cys
XM_005255124.4:c.4511A>G	XP_005255181.1:p.Tyr1504Cys
XM_005255125.4:c.4139A>G	XP_005255182.1:p.Tyr1380Cys
XM_006720848.3:c.4295A>G	XP_006720911.1:p.Tyr1432Cys
XM_011522381.2:c.3803A>G	XP_011520683.1:p.Tyr1268Cys
XM_017022944.1:c.4550A>G	XP_016878433.1:p.Tyr1517Cys
NM_004380.3:c.4556A>G MANE Select	NP_004371.2:p.Tyr1519Cys