Canonical Allele Identifier: CA394560495

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3841995C>G (hg19) ; chr16:g.3791994C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1317G>C MANE Select	ENSP00000262367.5:p.Lys439Asn
ENST00000262367.9:c.1317G>C	ENSP00000262367.5:p.Lys439Asn
ENST00000382070.7:c.1216+1392G>C	ENSP00000371502.3:n.1216+1392G>C
NM_001079846.1:c.1216+1392G>C	NP_001073315.1:n.1216+1392G>C
NM_004380.2:c.1317G>C	NP_004371.2:p.Lys439Asn
XM_005255124.3:c.1317G>C	XP_005255181.1:p.Lys439Asn
XM_005255125.3:c.1317G>C	XP_005255182.1:p.Lys439Asn
XM_006720848.2:c.1317G>C	XP_006720911.1:p.Lys439Asn
XM_011522380.1:c.1263G>C	XP_011520682.1:p.Lys421Asn
XM_011522381.1:c.564G>C	XP_011520683.1:p.Lys188Asn
XM_011522382.1:c.1317G>C	XP_011520684.1:p.Lys439Asn
XM_005255124.4:c.1317G>C	XP_005255181.1:p.Lys439Asn
XM_005255125.4:c.1317G>C	XP_005255182.1:p.Lys439Asn
XM_006720848.3:c.1317G>C	XP_006720911.1:p.Lys439Asn
XM_011522381.2:c.564G>C	XP_011520683.1:p.Lys188Asn
XM_011522382.3:c.1317G>C	XP_011520684.1:p.Lys439Asn
XM_017022944.1:c.1317G>C	XP_016878433.1:p.Lys439Asn
NM_004380.3:c.1317G>C MANE Select	NP_004371.2:p.Lys439Asn