Canonical Allele Identifier: CA394556455

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729623-G-T
• COSMIC: COSM270820
• MyVariant Identifiers: chr16:g.3779624G>T (hg19) ; chr16:g.3729623G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729623G>T , CM000678.2:g.3729623G>T	GRCh38
NC_000016.9:g.3779624G>T , CM000678.1:g.3779624G>T	GRCh37
NC_000016.8:g.3719625G>T	NCBI36
NG_009873.1:g.155498C>A
NG_009873.2:g.156091C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5424C>A MANE Select	ENSP00000262367.5:p.Cys1808Ter
ENST00000262367.9:c.5424C>A	ENSP00000262367.5:p.Cys1808Ter
ENST00000382070.7:c.5310C>A	ENSP00000371502.3:p.Cys1770Ter
NM_001079846.1:c.5310C>A	NP_001073315.1:p.Cys1770Ter
NM_004380.2:c.5424C>A	NP_004371.2:p.Cys1808Ter
XM_005255124.3:c.5379C>A	XP_005255181.1:p.Cys1793Ter
XM_005255125.3:c.5007C>A	XP_005255182.1:p.Cys1669Ter
XM_006720848.2:c.5163C>A	XP_006720911.1:p.Cys1721Ter
XM_011522380.1:c.5370C>A	XP_011520682.1:p.Cys1790Ter
XM_011522381.1:c.4671C>A	XP_011520683.1:p.Cys1557Ter
XM_005255124.4:c.5379C>A	XP_005255181.1:p.Cys1793Ter
XM_005255125.4:c.5007C>A	XP_005255182.1:p.Cys1669Ter
XM_006720848.3:c.5163C>A	XP_006720911.1:p.Cys1721Ter
XM_011522381.2:c.4671C>A	XP_011520683.1:p.Cys1557Ter
XM_017022944.1:c.5418C>A	XP_016878433.1:p.Cys1806Ter
NM_004380.3:c.5424C>A MANE Select	NP_004371.2:p.Cys1808Ter