Canonical Allele Identifier: CA394551208

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300466
• MyVariant Identifiers: chr16:g.3778123C>A (hg19) ; chr16:g.3728122C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728122C>A , CM000678.2:g.3728122C>A	GRCh38
NC_000016.9:g.3778123C>A , CM000678.1:g.3778123C>A	GRCh37
NC_000016.8:g.3718124C>A	NCBI36
NG_009873.1:g.156999G>T
NG_009873.2:g.157592G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6925G>T MANE Select	ENSP00000262367.5:p.Gly2309Cys
ENST00000262367.9:c.6925G>T	ENSP00000262367.5:p.Gly2309Cys
ENST00000382070.7:c.6811G>T	ENSP00000371502.3:p.Gly2271Cys
NM_001079846.1:c.6811G>T	NP_001073315.1:p.Gly2271Cys
NM_004380.2:c.6925G>T	NP_004371.2:p.Gly2309Cys
XM_005255124.3:c.6880G>T	XP_005255181.1:p.Gly2294Cys
XM_005255125.3:c.6508G>T	XP_005255182.1:p.Gly2170Cys
XM_006720848.2:c.6664G>T	XP_006720911.1:p.Gly2222Cys
XM_011522380.1:c.6871G>T	XP_011520682.1:p.Gly2291Cys
XM_011522381.1:c.6172G>T	XP_011520683.1:p.Gly2058Cys
XM_005255124.4:c.6880G>T	XP_005255181.1:p.Gly2294Cys
XM_005255125.4:c.6508G>T	XP_005255182.1:p.Gly2170Cys
XM_006720848.3:c.6664G>T	XP_006720911.1:p.Gly2222Cys
XM_011522381.2:c.6172G>T	XP_011520683.1:p.Gly2058Cys
XM_017022944.1:c.6919G>T	XP_016878433.1:p.Gly2307Cys
NM_004380.3:c.6925G>T MANE Select	NP_004371.2:p.Gly2309Cys