Canonical Allele Identifier: CA394554605

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1709029
• ClinVar RCV Id: RCV002288313
• dbSNP Id: rs2151306711
• MyVariant Identifiers: chr16:g.3779035G>A (hg19) ; chr16:g.3729034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729034G>A , CM000678.2:g.3729034G>A	GRCh38
NC_000016.9:g.3779035G>A , CM000678.1:g.3779035G>A	GRCh37
NC_000016.8:g.3719036G>A	NCBI36
NG_009873.1:g.156087C>T
NG_009873.2:g.156680C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6013C>T MANE Select	ENSP00000262367.5:p.Pro2005Ser
ENST00000262367.9:c.6013C>T	ENSP00000262367.5:p.Pro2005Ser
ENST00000382070.7:c.5899C>T	ENSP00000371502.3:p.Pro1967Ser
NM_001079846.1:c.5899C>T	NP_001073315.1:p.Pro1967Ser
NM_004380.2:c.6013C>T	NP_004371.2:p.Pro2005Ser
XM_005255124.3:c.5968C>T	XP_005255181.1:p.Pro1990Ser
XM_005255125.3:c.5596C>T	XP_005255182.1:p.Pro1866Ser
XM_006720848.2:c.5752C>T	XP_006720911.1:p.Pro1918Ser
XM_011522380.1:c.5959C>T	XP_011520682.1:p.Pro1987Ser
XM_011522381.1:c.5260C>T	XP_011520683.1:p.Pro1754Ser
XM_005255124.4:c.5968C>T	XP_005255181.1:p.Pro1990Ser
XM_005255125.4:c.5596C>T	XP_005255182.1:p.Pro1866Ser
XM_006720848.3:c.5752C>T	XP_006720911.1:p.Pro1918Ser
XM_011522381.2:c.5260C>T	XP_011520683.1:p.Pro1754Ser
XM_017022944.1:c.6007C>T	XP_016878433.1:p.Pro2003Ser
NM_004380.3:c.6013C>T MANE Select	NP_004371.2:p.Pro2005Ser