Canonical Allele Identifier: CA10588618

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 265346
• ClinVar RCV Id: RCV000254930 ; RCV000757967 ; RCV002282094 ; RCV003156089
• dbSNP Id: rs886039491
• MyVariant Identifiers: chr16:g.3779446G>A (hg19) ; chr16:g.3729445G>A (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729445G>A , CM000678.2:g.3729445G>A	GRCh38
NC_000016.9:g.3779446G>A , CM000678.1:g.3779446G>A	GRCh37
NC_000016.8:g.3719447G>A	NCBI36
NG_009873.1:g.155676C>T
NG_009873.2:g.156269C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5602C>T MANE Select	ENSP00000262367.5:p.Arg1868Trp
ENST00000262367.9:c.5602C>T	ENSP00000262367.5:p.Arg1868Trp
ENST00000382070.7:c.5488C>T	ENSP00000371502.3:p.Arg1830Trp
NM_001079846.1:c.5488C>T	NP_001073315.1:p.Arg1830Trp
NM_004380.2:c.5602C>T	NP_004371.2:p.Arg1868Trp
XM_005255124.3:c.5557C>T	XP_005255181.1:p.Arg1853Trp
XM_005255125.3:c.5185C>T	XP_005255182.1:p.Arg1729Trp
XM_006720848.2:c.5341C>T	XP_006720911.1:p.Arg1781Trp
XM_011522380.1:c.5548C>T	XP_011520682.1:p.Arg1850Trp
XM_011522381.1:c.4849C>T	XP_011520683.1:p.Arg1617Trp
XM_005255124.4:c.5557C>T	XP_005255181.1:p.Arg1853Trp
XM_005255125.4:c.5185C>T	XP_005255182.1:p.Arg1729Trp
XM_006720848.3:c.5341C>T	XP_006720911.1:p.Arg1781Trp
XM_011522381.2:c.4849C>T	XP_011520683.1:p.Arg1617Trp
XM_017022944.1:c.5596C>T	XP_016878433.1:p.Arg1866Trp
NM_004380.3:c.5602C>T MANE Select	NP_004371.2:p.Arg1868Trp