Canonical Allele Identifier: CA394563957

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329901
• MyVariant Identifiers: chr16:g.3786775C>A (hg19) ; chr16:g.3736774C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736774C>A , CM000678.2:g.3736774C>A	GRCh38
NC_000016.9:g.3786775C>A , CM000678.1:g.3786775C>A	GRCh37
NC_000016.8:g.3726776C>A	NCBI36
NG_009873.1:g.148347G>T
NG_009873.2:g.148940G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4436G>T MANE Select	ENSP00000262367.5:p.Gly1479Val
ENST00000262367.9:c.4436G>T	ENSP00000262367.5:p.Gly1479Val
ENST00000382070.7:c.4322G>T	ENSP00000371502.3:p.Gly1441Val
ENST00000570939.2:c.3071G>T	ENSP00000461002.2:p.Gly1024Val
ENST00000571763.5:n.226G>T
ENST00000574740.1:n.257G>T
ENST00000576720.1:n.3259G>T
NM_001079846.1:c.4322G>T	NP_001073315.1:p.Gly1441Val
NM_004380.2:c.4436G>T	NP_004371.2:p.Gly1479Val
XM_005255124.3:c.4391G>T	XP_005255181.1:p.Gly1464Val
XM_005255125.3:c.4019G>T	XP_005255182.1:p.Gly1340Val
XM_006720848.2:c.4175G>T	XP_006720911.1:p.Gly1392Val
XM_011522380.1:c.4382G>T	XP_011520682.1:p.Gly1461Val
XM_011522381.1:c.3683G>T	XP_011520683.1:p.Gly1228Val
XM_005255124.4:c.4391G>T	XP_005255181.1:p.Gly1464Val
XM_005255125.4:c.4019G>T	XP_005255182.1:p.Gly1340Val
XM_006720848.3:c.4175G>T	XP_006720911.1:p.Gly1392Val
XM_011522381.2:c.3683G>T	XP_011520683.1:p.Gly1228Val
XM_017022944.1:c.4430G>T	XP_016878433.1:p.Gly1477Val
NM_004380.3:c.4436G>T MANE Select	NP_004371.2:p.Gly1479Val