Canonical Allele Identifier: CA394563443

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052069959
• MyVariant Identifiers: chr16:g.3786684C>G (hg19) ; chr16:g.3736683C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736683C>G , CM000678.2:g.3736683C>G	GRCh38
NC_000016.9:g.3786684C>G , CM000678.1:g.3786684C>G	GRCh37
NC_000016.8:g.3726685C>G	NCBI36
NG_009873.1:g.148438G>C
NG_009873.2:g.149031G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4527G>C MANE Select	ENSP00000262367.5:p.Lys1509Asn
ENST00000262367.9:c.4527G>C	ENSP00000262367.5:p.Lys1509Asn
ENST00000382070.7:c.4413G>C	ENSP00000371502.3:p.Lys1471Asn
ENST00000570939.2:c.3162G>C	ENSP00000461002.2:p.Lys1054Asn
ENST00000571763.5:n.317G>C
ENST00000574740.1:n.348G>C
ENST00000576720.1:n.3350G>C
NM_001079846.1:c.4413G>C	NP_001073315.1:p.Lys1471Asn
NM_004380.2:c.4527G>C	NP_004371.2:p.Lys1509Asn
XM_005255124.3:c.4482G>C	XP_005255181.1:p.Lys1494Asn
XM_005255125.3:c.4110G>C	XP_005255182.1:p.Lys1370Asn
XM_006720848.2:c.4266G>C	XP_006720911.1:p.Lys1422Asn
XM_011522380.1:c.4473G>C	XP_011520682.1:p.Lys1491Asn
XM_011522381.1:c.3774G>C	XP_011520683.1:p.Lys1258Asn
XM_005255124.4:c.4482G>C	XP_005255181.1:p.Lys1494Asn
XM_005255125.4:c.4110G>C	XP_005255182.1:p.Lys1370Asn
XM_006720848.3:c.4266G>C	XP_006720911.1:p.Lys1422Asn
XM_011522381.2:c.3774G>C	XP_011520683.1:p.Lys1258Asn
XM_017022944.1:c.4521G>C	XP_016878433.1:p.Lys1507Asn
NM_004380.3:c.4527G>C MANE Select	NP_004371.2:p.Lys1509Asn