Canonical Allele Identifier: CA7870486

Gene: CREBBP

Linked Data

• dbSNP Id: rs750475407
• ExAC: 16:3841995 C / T
• gnomAD v2: 16-3841995-C-T
• gnomAD v4: 16-3791994-C-T
• MyVariant Identifiers: chr16:g.3841995C>T (hg19) ; chr16:g.3791994C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3791994C>T , CM000678.2:g.3791994C>T	GRCh38
NC_000016.9:g.3841995C>T , CM000678.1:g.3841995C>T	GRCh37
NC_000016.8:g.3781996C>T	NCBI36
NG_009873.1:g.93127G>A
NG_009873.2:g.93720G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1317G>A MANE Select	ENSP00000262367.5:p.Lys439=
ENST00000262367.9:c.1317G>A	ENSP00000262367.5:p.Lys439=
ENST00000382070.7:c.1216+1392G>A	ENSP00000371502.3:n.1216+1392G>A
NM_001079846.1:c.1216+1392G>A	NP_001073315.1:n.1216+1392G>A
NM_004380.2:c.1317G>A	NP_004371.2:p.Lys439=
XM_005255124.3:c.1317G>A	XP_005255181.1:p.Lys439=
XM_005255125.3:c.1317G>A	XP_005255182.1:p.Lys439=
XM_006720848.2:c.1317G>A	XP_006720911.1:p.Lys439=
XM_011522380.1:c.1263G>A	XP_011520682.1:p.Lys421=
XM_011522381.1:c.564G>A	XP_011520683.1:p.Lys188=
XM_011522382.1:c.1317G>A	XP_011520684.1:p.Lys439=
XM_005255124.4:c.1317G>A	XP_005255181.1:p.Lys439=
XM_005255125.4:c.1317G>A	XP_005255182.1:p.Lys439=
XM_006720848.3:c.1317G>A	XP_006720911.1:p.Lys439=
XM_011522381.2:c.564G>A	XP_011520683.1:p.Lys188=
XM_011522382.3:c.1317G>A	XP_011520684.1:p.Lys439=
XM_017022944.1:c.1317G>A	XP_016878433.1:p.Lys439=
NM_004380.3:c.1317G>A MANE Select	NP_004371.2:p.Lys439=