Canonical Allele Identifier: CA493279667

Gene: CREBBP

Linked Data

• dbSNP Id: rs573818190
• MyVariant Identifiers: chr16:g.3786804C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736803C>G , CM000678.2:g.3736803C>G	GRCh38
NC_000016.9:g.3786804C>G , CM000678.1:g.3786804C>G	GRCh37
NC_000016.8:g.3726805C>G	NCBI36
NG_009873.1:g.148318G>C
NG_009873.2:g.148911G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4407G>C MANE Select	ENSP00000262367.5:p.Gly1469=
ENST00000262367.9:c.4407G>C	ENSP00000262367.5:p.Gly1469=
ENST00000382070.7:c.4293G>C	ENSP00000371502.3:p.Gly1431=
ENST00000570939.2:c.3042G>C	ENSP00000461002.2:p.Gly1014=
ENST00000571763.5:n.197G>C
ENST00000574740.1:n.228G>C
ENST00000576720.1:n.3230G>C
NM_001079846.1:c.4293G>C	NP_001073315.1:p.Gly1431=
NM_004380.2:c.4407G>C	NP_004371.2:p.Gly1469=
XM_005255124.3:c.4362G>C	XP_005255181.1:p.Gly1454=
XM_005255125.3:c.3990G>C	XP_005255182.1:p.Gly1330=
XM_006720848.2:c.4146G>C	XP_006720911.1:p.Gly1382=
XM_011522380.1:c.4353G>C	XP_011520682.1:p.Gly1451=
XM_011522381.1:c.3654G>C	XP_011520683.1:p.Gly1218=
XM_005255124.4:c.4362G>C	XP_005255181.1:p.Gly1454=
XM_005255125.4:c.3990G>C	XP_005255182.1:p.Gly1330=
XM_006720848.3:c.4146G>C	XP_006720911.1:p.Gly1382=
XM_011522381.2:c.3654G>C	XP_011520683.1:p.Gly1218=
XM_017022944.1:c.4401G>C	XP_016878433.1:p.Gly1467=
NM_004380.3:c.4407G>C MANE Select	NP_004371.2:p.Gly1469=