Canonical Allele Identifier: CA394564035

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151330132
• MyVariant Identifiers: chr16:g.3786806C>G (hg19) ; chr16:g.3736805C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736805C>G , CM000678.2:g.3736805C>G	GRCh38
NC_000016.9:g.3786806C>G , CM000678.1:g.3786806C>G	GRCh37
NC_000016.8:g.3726807C>G	NCBI36
NG_009873.1:g.148316G>C
NG_009873.2:g.148909G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4405G>C MANE Select	ENSP00000262367.5:p.Gly1469Arg
ENST00000262367.9:c.4405G>C	ENSP00000262367.5:p.Gly1469Arg
ENST00000382070.7:c.4291G>C	ENSP00000371502.3:p.Gly1431Arg
ENST00000570939.2:c.3040G>C	ENSP00000461002.2:p.Gly1014Arg
ENST00000571763.5:n.195G>C
ENST00000574740.1:n.226G>C
ENST00000576720.1:n.3228G>C
NM_001079846.1:c.4291G>C	NP_001073315.1:p.Gly1431Arg
NM_004380.2:c.4405G>C	NP_004371.2:p.Gly1469Arg
XM_005255124.3:c.4360G>C	XP_005255181.1:p.Gly1454Arg
XM_005255125.3:c.3988G>C	XP_005255182.1:p.Gly1330Arg
XM_006720848.2:c.4144G>C	XP_006720911.1:p.Gly1382Arg
XM_011522380.1:c.4351G>C	XP_011520682.1:p.Gly1451Arg
XM_011522381.1:c.3652G>C	XP_011520683.1:p.Gly1218Arg
XM_005255124.4:c.4360G>C	XP_005255181.1:p.Gly1454Arg
XM_005255125.4:c.3988G>C	XP_005255182.1:p.Gly1330Arg
XM_006720848.3:c.4144G>C	XP_006720911.1:p.Gly1382Arg
XM_011522381.2:c.3652G>C	XP_011520683.1:p.Gly1218Arg
XM_017022944.1:c.4399G>C	XP_016878433.1:p.Gly1467Arg
NM_004380.3:c.4405G>C MANE Select	NP_004371.2:p.Gly1469Arg