Canonical Allele Identifier: CA7870621

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1758924
• ClinVar RCV Id: RCV002385065 ; RCV003388114 ; RCV003418477
• dbSNP Id: rs374499169
• ExAC: 16:3900353 G / A
• gnomAD v2: 16-3900353-G-A
• gnomAD v3: 16-3850352-G-A
• gnomAD v4: 16-3850352-G-A
• MyVariant Identifiers: chr16:g.3900353G>A (hg19) ; chr16:g.3850352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850352G>A , CM000678.2:g.3850352G>A	GRCh38
NC_000016.9:g.3900353G>A , CM000678.1:g.3900353G>A	GRCh37
NC_000016.8:g.3840354G>A	NCBI36
NG_009873.1:g.34769C>T
NG_009873.2:g.35362C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.743C>T MANE Select	ENSP00000262367.5:p.Pro248Leu
ENST00000262367.9:c.743C>T	ENSP00000262367.5:p.Pro248Leu
ENST00000382070.7:c.743C>T	ENSP00000371502.3:p.Pro248Leu
NM_001079846.1:c.743C>T	NP_001073315.1:p.Pro248Leu
NM_004380.2:c.743C>T	NP_004371.2:p.Pro248Leu
XM_005255124.3:c.743C>T	XP_005255181.1:p.Pro248Leu
XM_005255125.3:c.743C>T	XP_005255182.1:p.Pro248Leu
XM_006720848.2:c.743C>T	XP_006720911.1:p.Pro248Leu
XM_011522380.1:c.689C>T	XP_011520682.1:p.Pro230Leu
XM_011522382.1:c.743C>T	XP_011520684.1:p.Pro248Leu
XM_005255124.4:c.743C>T	XP_005255181.1:p.Pro248Leu
XM_005255125.4:c.743C>T	XP_005255182.1:p.Pro248Leu
XM_006720848.3:c.743C>T	XP_006720911.1:p.Pro248Leu
XM_011522382.3:c.743C>T	XP_011520684.1:p.Pro248Leu
XM_017022944.1:c.743C>T	XP_016878433.1:p.Pro248Leu
NM_004380.3:c.743C>T MANE Select	NP_004371.2:p.Pro248Leu