Canonical Allele Identifier: CA394555270

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1029839
• ClinVar RCV Id: RCV001331221
• dbSNP Id: rs1231016252
• gnomAD v4: 16-3729205-G-T
• MyVariant Identifiers: chr16:g.3779206G>T (hg19) ; chr16:g.3729205G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729205G>T , CM000678.2:g.3729205G>T	GRCh38
NC_000016.9:g.3779206G>T , CM000678.1:g.3779206G>T	GRCh37
NC_000016.8:g.3719207G>T	NCBI36
NG_009873.1:g.155916C>A
NG_009873.2:g.156509C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5842C>A MANE Select	ENSP00000262367.5:p.Pro1948Thr
ENST00000262367.9:c.5842C>A	ENSP00000262367.5:p.Pro1948Thr
ENST00000382070.7:c.5728C>A	ENSP00000371502.3:p.Pro1910Thr
NM_001079846.1:c.5728C>A	NP_001073315.1:p.Pro1910Thr
NM_004380.2:c.5842C>A	NP_004371.2:p.Pro1948Thr
XM_005255124.3:c.5797C>A	XP_005255181.1:p.Pro1933Thr
XM_005255125.3:c.5425C>A	XP_005255182.1:p.Pro1809Thr
XM_006720848.2:c.5581C>A	XP_006720911.1:p.Pro1861Thr
XM_011522380.1:c.5788C>A	XP_011520682.1:p.Pro1930Thr
XM_011522381.1:c.5089C>A	XP_011520683.1:p.Pro1697Thr
XM_005255124.4:c.5797C>A	XP_005255181.1:p.Pro1933Thr
XM_005255125.4:c.5425C>A	XP_005255182.1:p.Pro1809Thr
XM_006720848.3:c.5581C>A	XP_006720911.1:p.Pro1861Thr
XM_011522381.2:c.5089C>A	XP_011520683.1:p.Pro1697Thr
XM_017022944.1:c.5836C>A	XP_016878433.1:p.Pro1946Thr
NM_004380.3:c.5842C>A MANE Select	NP_004371.2:p.Pro1948Thr