Canonical Allele Identifier: CA7870276

Gene: CREBBP

Linked Data

• dbSNP Id: rs779099706
• ExAC: 16:3828026 G / A
• gnomAD v2: 16-3828026-G-A
• gnomAD v4: 16-3778025-G-A
• COSMIC: COSM5529207
• MyVariant Identifiers: chr16:g.3828026G>A (hg19) ; chr16:g.3778025G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778025G>A , CM000678.2:g.3778025G>A	GRCh38
NC_000016.9:g.3828026G>A , CM000678.1:g.3828026G>A	GRCh37
NC_000016.8:g.3768027G>A	NCBI36
NG_009873.1:g.107096C>T
NG_009873.2:g.107689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2099C>T MANE Select	ENSP00000262367.5:p.Pro700Leu
ENST00000262367.9:c.2099C>T	ENSP00000262367.5:p.Pro700Leu
ENST00000382070.7:c.1985C>T	ENSP00000371502.3:p.Pro662Leu
ENST00000570939.2:c.704C>T	ENSP00000461002.2:p.Pro235Leu
ENST00000571826.5:c.148C>T
ENST00000572134.1:c.412C>T
ENST00000634839.1:n.261C>T
NM_001079846.1:c.1985C>T	NP_001073315.1:p.Pro662Leu
NM_004380.2:c.2099C>T	NP_004371.2:p.Pro700Leu
XM_005255124.3:c.2099C>T	XP_005255181.1:p.Pro700Leu
XM_005255125.3:c.2099C>T	XP_005255182.1:p.Pro700Leu
XM_006720848.2:c.2099C>T	XP_006720911.1:p.Pro700Leu
XM_011522380.1:c.2045C>T	XP_011520682.1:p.Pro682Leu
XM_011522381.1:c.1346C>T	XP_011520683.1:p.Pro449Leu
XM_011522382.1:c.2099C>T	XP_011520684.1:p.Pro700Leu
XM_005255124.4:c.2099C>T	XP_005255181.1:p.Pro700Leu
XM_005255125.4:c.2099C>T	XP_005255182.1:p.Pro700Leu
XM_006720848.3:c.2099C>T	XP_006720911.1:p.Pro700Leu
XM_011522381.2:c.1346C>T	XP_011520683.1:p.Pro449Leu
XM_011522382.3:c.2099C>T	XP_011520684.1:p.Pro700Leu
XM_017022944.1:c.2099C>T	XP_016878433.1:p.Pro700Leu
NM_004380.3:c.2099C>T MANE Select	NP_004371.2:p.Pro700Leu