Canonical Allele Identifier: CA394553661

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2581790
• ClinVar RCV Id: RCV003332496
• dbSNP Id: rs778859685
• MyVariant Identifiers: chr16:g.3778735T>G (hg19) ; chr16:g.3728734T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728734T>G , CM000678.2:g.3728734T>G	GRCh38
NC_000016.9:g.3778735T>G , CM000678.1:g.3778735T>G	GRCh37
NC_000016.8:g.3718736T>G	NCBI36
NG_009873.1:g.156387A>C
NG_009873.2:g.156980A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6313A>C MANE Select	ENSP00000262367.5:p.Thr2105Pro
ENST00000262367.9:c.6313A>C	ENSP00000262367.5:p.Thr2105Pro
ENST00000382070.7:c.6199A>C	ENSP00000371502.3:p.Thr2067Pro
NM_001079846.1:c.6199A>C	NP_001073315.1:p.Thr2067Pro
NM_004380.2:c.6313A>C	NP_004371.2:p.Thr2105Pro
XM_005255124.3:c.6268A>C	XP_005255181.1:p.Thr2090Pro
XM_005255125.3:c.5896A>C	XP_005255182.1:p.Thr1966Pro
XM_006720848.2:c.6052A>C	XP_006720911.1:p.Thr2018Pro
XM_011522380.1:c.6259A>C	XP_011520682.1:p.Thr2087Pro
XM_011522381.1:c.5560A>C	XP_011520683.1:p.Thr1854Pro
XM_005255124.4:c.6268A>C	XP_005255181.1:p.Thr2090Pro
XM_005255125.4:c.5896A>C	XP_005255182.1:p.Thr1966Pro
XM_006720848.3:c.6052A>C	XP_006720911.1:p.Thr2018Pro
XM_011522381.2:c.5560A>C	XP_011520683.1:p.Thr1854Pro
XM_017022944.1:c.6307A>C	XP_016878433.1:p.Thr2103Pro
NM_004380.3:c.6313A>C MANE Select	NP_004371.2:p.Thr2105Pro