Canonical Allele Identifier: CA222679

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 95030
• ClinVar RCV Id: RCV000081035
• dbSNP Id: rs398124141
• MyVariant Identifiers: chr16:g.3828091G>A (hg19) ; chr16:g.3778090G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778090G>A , CM000678.2:g.3778090G>A	GRCh38
NC_000016.9:g.3828091G>A , CM000678.1:g.3828091G>A	GRCh37
NC_000016.8:g.3768092G>A	NCBI36
NG_009873.1:g.107031C>T
NG_009873.2:g.107624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2034C>T MANE Select	ENSP00000262367.5:p.Ile678=
ENST00000262367.9:c.2034C>T	ENSP00000262367.5:p.Ile678=
ENST00000382070.7:c.1920C>T	ENSP00000371502.3:p.Ile640=
ENST00000570939.2:c.639C>T	ENSP00000461002.2:p.Ile213=
ENST00000571826.5:c.83C>T
ENST00000572134.1:c.347C>T
ENST00000634839.1:n.196C>T
NM_001079846.1:c.1920C>T	NP_001073315.1:p.Ile640=
NM_004380.2:c.2034C>T	NP_004371.2:p.Ile678=
XM_005255124.3:c.2034C>T	XP_005255181.1:p.Ile678=
XM_005255125.3:c.2034C>T	XP_005255182.1:p.Ile678=
XM_006720848.2:c.2034C>T	XP_006720911.1:p.Ile678=
XM_011522380.1:c.1980C>T	XP_011520682.1:p.Ile660=
XM_011522381.1:c.1281C>T	XP_011520683.1:p.Ile427=
XM_011522382.1:c.2034C>T	XP_011520684.1:p.Ile678=
XM_005255124.4:c.2034C>T	XP_005255181.1:p.Ile678=
XM_005255125.4:c.2034C>T	XP_005255182.1:p.Ile678=
XM_006720848.3:c.2034C>T	XP_006720911.1:p.Ile678=
XM_011522381.2:c.1281C>T	XP_011520683.1:p.Ile427=
XM_011522382.3:c.2034C>T	XP_011520684.1:p.Ile678=
XM_017022944.1:c.2034C>T	XP_016878433.1:p.Ile678=
NM_004380.3:c.2034C>T MANE Select	NP_004371.2:p.Ile678=