Canonical Allele Identifier: CA394550487

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2916643
• ClinVar RCV Id: RCV003760598
• gnomAD v4: 16-3727924-G-A
• MyVariant Identifiers: chr16:g.3777925G>A (hg19) ; chr16:g.3727924G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727924G>A , CM000678.2:g.3727924G>A	GRCh38
NC_000016.9:g.3777925G>A , CM000678.1:g.3777925G>A	GRCh37
NC_000016.8:g.3717926G>A	NCBI36
NG_009873.1:g.157197C>T
NG_009873.2:g.157790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7123C>T MANE Select	ENSP00000262367.5:p.His2375Tyr
ENST00000262367.9:c.7123C>T	ENSP00000262367.5:p.His2375Tyr
ENST00000382070.7:c.7009C>T	ENSP00000371502.3:p.His2337Tyr
NM_001079846.1:c.7009C>T	NP_001073315.1:p.His2337Tyr
NM_004380.2:c.7123C>T	NP_004371.2:p.His2375Tyr
XM_005255124.3:c.7078C>T	XP_005255181.1:p.His2360Tyr
XM_005255125.3:c.6706C>T	XP_005255182.1:p.His2236Tyr
XM_006720848.2:c.6862C>T	XP_006720911.1:p.His2288Tyr
XM_011522380.1:c.7069C>T	XP_011520682.1:p.His2357Tyr
XM_011522381.1:c.6370C>T	XP_011520683.1:p.His2124Tyr
XM_005255124.4:c.7078C>T	XP_005255181.1:p.His2360Tyr
XM_005255125.4:c.6706C>T	XP_005255182.1:p.His2236Tyr
XM_006720848.3:c.6862C>T	XP_006720911.1:p.His2288Tyr
XM_011522381.2:c.6370C>T	XP_011520683.1:p.His2124Tyr
XM_017022944.1:c.7117C>T	XP_016878433.1:p.His2373Tyr
NM_004380.3:c.7123C>T MANE Select	NP_004371.2:p.His2375Tyr