Canonical Allele Identifier: CA394560670

Gene: CREBBP

Linked Data

• dbSNP Id: rs2141280910
• MyVariant Identifiers: chr16:g.3842034G>C (hg19) ; chr16:g.3792033G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792033G>C , CM000678.2:g.3792033G>C	GRCh38
NC_000016.9:g.3842034G>C , CM000678.1:g.3842034G>C	GRCh37
NC_000016.8:g.3782035G>C	NCBI36
NG_009873.1:g.93088C>G
NG_009873.2:g.93681C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1278C>G MANE Select	ENSP00000262367.5:p.Asp426Glu
ENST00000262367.9:c.1278C>G	ENSP00000262367.5:p.Asp426Glu
ENST00000382070.7:c.1216+1353C>G	ENSP00000371502.3:n.1216+1353C>G
NM_001079846.1:c.1216+1353C>G	NP_001073315.1:n.1216+1353C>G
NM_004380.2:c.1278C>G	NP_004371.2:p.Asp426Glu
XM_005255124.3:c.1278C>G	XP_005255181.1:p.Asp426Glu
XM_005255125.3:c.1278C>G	XP_005255182.1:p.Asp426Glu
XM_006720848.2:c.1278C>G	XP_006720911.1:p.Asp426Glu
XM_011522380.1:c.1224C>G	XP_011520682.1:p.Asp408Glu
XM_011522381.1:c.525C>G	XP_011520683.1:p.Asp175Glu
XM_011522382.1:c.1278C>G	XP_011520684.1:p.Asp426Glu
XM_005255124.4:c.1278C>G	XP_005255181.1:p.Asp426Glu
XM_005255125.4:c.1278C>G	XP_005255182.1:p.Asp426Glu
XM_006720848.3:c.1278C>G	XP_006720911.1:p.Asp426Glu
XM_011522381.2:c.525C>G	XP_011520683.1:p.Asp175Glu
XM_011522382.3:c.1278C>G	XP_011520684.1:p.Asp426Glu
XM_017022944.1:c.1278C>G	XP_016878433.1:p.Asp426Glu
NM_004380.3:c.1278C>G MANE Select	NP_004371.2:p.Asp426Glu