Canonical Allele Identifier: CA394551258

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728134-T-C
• MyVariant Identifiers: chr16:g.3778135T>C (hg19) ; chr16:g.3728134T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728134T>C , CM000678.2:g.3728134T>C	GRCh38
NC_000016.9:g.3778135T>C , CM000678.1:g.3778135T>C	GRCh37
NC_000016.8:g.3718136T>C	NCBI36
NG_009873.1:g.156987A>G
NG_009873.2:g.157580A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6913A>G MANE Select	ENSP00000262367.5:p.Ile2305Val
ENST00000262367.9:c.6913A>G	ENSP00000262367.5:p.Ile2305Val
ENST00000382070.7:c.6799A>G	ENSP00000371502.3:p.Ile2267Val
NM_001079846.1:c.6799A>G	NP_001073315.1:p.Ile2267Val
NM_004380.2:c.6913A>G	NP_004371.2:p.Ile2305Val
XM_005255124.3:c.6868A>G	XP_005255181.1:p.Ile2290Val
XM_005255125.3:c.6496A>G	XP_005255182.1:p.Ile2166Val
XM_006720848.2:c.6652A>G	XP_006720911.1:p.Ile2218Val
XM_011522380.1:c.6859A>G	XP_011520682.1:p.Ile2287Val
XM_011522381.1:c.6160A>G	XP_011520683.1:p.Ile2054Val
XM_005255124.4:c.6868A>G	XP_005255181.1:p.Ile2290Val
XM_005255125.4:c.6496A>G	XP_005255182.1:p.Ile2166Val
XM_006720848.3:c.6652A>G	XP_006720911.1:p.Ile2218Val
XM_011522381.2:c.6160A>G	XP_011520683.1:p.Ile2054Val
XM_017022944.1:c.6907A>G	XP_016878433.1:p.Ile2303Val
NM_004380.3:c.6913A>G MANE Select	NP_004371.2:p.Ile2305Val