Canonical Allele Identifier: CA394550640

Gene: CREBBP

Linked Data

• dbSNP Id: rs1179308620
• gnomAD v2: 16-3777985-G-T
• gnomAD v4: 16-3727984-G-T
• MyVariant Identifiers: chr16:g.3777985G>T (hg19) ; chr16:g.3727984G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727984G>T , CM000678.2:g.3727984G>T	GRCh38
NC_000016.9:g.3777985G>T , CM000678.1:g.3777985G>T	GRCh37
NC_000016.8:g.3717986G>T	NCBI36
NG_009873.1:g.157137C>A
NG_009873.2:g.157730C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7063C>A MANE Select	ENSP00000262367.5:p.Gln2355Lys
ENST00000262367.9:c.7063C>A	ENSP00000262367.5:p.Gln2355Lys
ENST00000382070.7:c.6949C>A	ENSP00000371502.3:p.Gln2317Lys
NM_001079846.1:c.6949C>A	NP_001073315.1:p.Gln2317Lys
NM_004380.2:c.7063C>A	NP_004371.2:p.Gln2355Lys
XM_005255124.3:c.7018C>A	XP_005255181.1:p.Gln2340Lys
XM_005255125.3:c.6646C>A	XP_005255182.1:p.Gln2216Lys
XM_006720848.2:c.6802C>A	XP_006720911.1:p.Gln2268Lys
XM_011522380.1:c.7009C>A	XP_011520682.1:p.Gln2337Lys
XM_011522381.1:c.6310C>A	XP_011520683.1:p.Gln2104Lys
XM_005255124.4:c.7018C>A	XP_005255181.1:p.Gln2340Lys
XM_005255125.4:c.6646C>A	XP_005255182.1:p.Gln2216Lys
XM_006720848.3:c.6802C>A	XP_006720911.1:p.Gln2268Lys
XM_011522381.2:c.6310C>A	XP_011520683.1:p.Gln2104Lys
XM_017022944.1:c.7057C>A	XP_016878433.1:p.Gln2353Lys
NM_004380.3:c.7063C>A MANE Select	NP_004371.2:p.Gln2355Lys