Canonical Allele Identifier: CA7870728

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2160354
• ClinVar RCV Id: RCV003086185
• dbSNP Id: rs747862621
• ExAC: 16:3900921 G / A
• gnomAD v2: 16-3900921-G-A
• gnomAD v3: 16-3850920-G-A
• gnomAD v4: 16-3850920-G-A
• COSMIC: COSM5608138
• MyVariant Identifiers: chr16:g.3900921G>A (hg19) ; chr16:g.3850920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850920G>A , CM000678.2:g.3850920G>A	GRCh38
NC_000016.9:g.3900921G>A , CM000678.1:g.3900921G>A	GRCh37
NC_000016.8:g.3840922G>A	NCBI36
NG_009873.1:g.34201C>T
NG_009873.2:g.34794C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.175C>T MANE Select	ENSP00000262367.5:p.Leu59Phe
ENST00000262367.9:c.175C>T	ENSP00000262367.5:p.Leu59Phe
ENST00000382070.7:c.175C>T	ENSP00000371502.3:p.Leu59Phe
NM_001079846.1:c.175C>T	NP_001073315.1:p.Leu59Phe
NM_004380.2:c.175C>T	NP_004371.2:p.Leu59Phe
XM_005255124.3:c.175C>T	XP_005255181.1:p.Leu59Phe
XM_005255125.3:c.175C>T	XP_005255182.1:p.Leu59Phe
XM_006720848.2:c.175C>T	XP_006720911.1:p.Leu59Phe
XM_011522380.1:c.121C>T	XP_011520682.1:p.Leu41Phe
XM_011522382.1:c.175C>T	XP_011520684.1:p.Leu59Phe
XM_005255124.4:c.175C>T	XP_005255181.1:p.Leu59Phe
XM_005255125.4:c.175C>T	XP_005255182.1:p.Leu59Phe
XM_006720848.3:c.175C>T	XP_006720911.1:p.Leu59Phe
XM_011522382.3:c.175C>T	XP_011520684.1:p.Leu59Phe
XM_017022944.1:c.175C>T	XP_016878433.1:p.Leu59Phe
NM_004380.3:c.175C>T MANE Select	NP_004371.2:p.Leu59Phe