Canonical Allele Identifier: CA394554288

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2102606
• ClinVar RCV Id: RCV003019595 ; RCV003410034
• dbSNP Id: rs2053186121
• MyVariant Identifiers: chr16:g.3828027G>A (hg19) ; chr16:g.3778026G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778026G>A , CM000678.2:g.3778026G>A	GRCh38
NC_000016.9:g.3828027G>A , CM000678.1:g.3828027G>A	GRCh37
NC_000016.8:g.3768028G>A	NCBI36
NG_009873.1:g.107095C>T
NG_009873.2:g.107688C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2098C>T MANE Select	ENSP00000262367.5:p.Pro700Ser
ENST00000262367.9:c.2098C>T	ENSP00000262367.5:p.Pro700Ser
ENST00000382070.7:c.1984C>T	ENSP00000371502.3:p.Pro662Ser
ENST00000570939.2:c.703C>T	ENSP00000461002.2:p.Pro235Ser
ENST00000571826.5:c.147C>T
ENST00000572134.1:c.411C>T
ENST00000634839.1:n.260C>T
NM_001079846.1:c.1984C>T	NP_001073315.1:p.Pro662Ser
NM_004380.2:c.2098C>T	NP_004371.2:p.Pro700Ser
XM_005255124.3:c.2098C>T	XP_005255181.1:p.Pro700Ser
XM_005255125.3:c.2098C>T	XP_005255182.1:p.Pro700Ser
XM_006720848.2:c.2098C>T	XP_006720911.1:p.Pro700Ser
XM_011522380.1:c.2044C>T	XP_011520682.1:p.Pro682Ser
XM_011522381.1:c.1345C>T	XP_011520683.1:p.Pro449Ser
XM_011522382.1:c.2098C>T	XP_011520684.1:p.Pro700Ser
XM_005255124.4:c.2098C>T	XP_005255181.1:p.Pro700Ser
XM_005255125.4:c.2098C>T	XP_005255182.1:p.Pro700Ser
XM_006720848.3:c.2098C>T	XP_006720911.1:p.Pro700Ser
XM_011522381.2:c.1345C>T	XP_011520683.1:p.Pro449Ser
XM_011522382.3:c.2098C>T	XP_011520684.1:p.Pro700Ser
XM_017022944.1:c.2098C>T	XP_016878433.1:p.Pro700Ser
NM_004380.3:c.2098C>T MANE Select	NP_004371.2:p.Pro700Ser