Canonical Allele Identifier: CA394557784

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 869444
• ClinVar RCV Id: RCV001089539
• dbSNP Id: rs2051863859
• MyVariant Identifiers: chr16:g.3779862C>G (hg19) ; chr16:g.3729861C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729861C>G , CM000678.2:g.3729861C>G	GRCh38
NC_000016.9:g.3779862C>G , CM000678.1:g.3779862C>G	GRCh37
NC_000016.8:g.3719863C>G	NCBI36
NG_009873.1:g.155260G>C
NG_009873.2:g.155853G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5186G>C MANE Select	ENSP00000262367.5:p.Cys1729Ser
ENST00000262367.9:c.5186G>C	ENSP00000262367.5:p.Cys1729Ser
ENST00000382070.7:c.5072G>C	ENSP00000371502.3:p.Cys1691Ser
NM_001079846.1:c.5072G>C	NP_001073315.1:p.Cys1691Ser
NM_004380.2:c.5186G>C	NP_004371.2:p.Cys1729Ser
XM_005255124.3:c.5141G>C	XP_005255181.1:p.Cys1714Ser
XM_005255125.3:c.4769G>C	XP_005255182.1:p.Cys1590Ser
XM_006720848.2:c.4925G>C	XP_006720911.1:p.Cys1642Ser
XM_011522380.1:c.5132G>C	XP_011520682.1:p.Cys1711Ser
XM_011522381.1:c.4433G>C	XP_011520683.1:p.Cys1478Ser
XM_005255124.4:c.5141G>C	XP_005255181.1:p.Cys1714Ser
XM_005255125.4:c.4769G>C	XP_005255182.1:p.Cys1590Ser
XM_006720848.3:c.4925G>C	XP_006720911.1:p.Cys1642Ser
XM_011522381.2:c.4433G>C	XP_011520683.1:p.Cys1478Ser
XM_017022944.1:c.5180G>C	XP_016878433.1:p.Cys1727Ser
NM_004380.3:c.5186G>C MANE Select	NP_004371.2:p.Cys1729Ser