Canonical Allele Identifier: CA394563756

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2046705
• ClinVar RCV Id: RCV002913817
• dbSNP Id: rs201156486
• MyVariant Identifiers: chr16:g.3786740G>A (hg19) ; chr16:g.3736739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736739G>A , CM000678.2:g.3736739G>A	GRCh38
NC_000016.9:g.3786740G>A , CM000678.1:g.3786740G>A	GRCh37
NC_000016.8:g.3726741G>A	NCBI36
NG_009873.1:g.148382C>T
NG_009873.2:g.148975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4471C>T MANE Select	ENSP00000262367.5:p.Gln1491Ter
ENST00000262367.9:c.4471C>T	ENSP00000262367.5:p.Gln1491Ter
ENST00000382070.7:c.4357C>T	ENSP00000371502.3:p.Gln1453Ter
ENST00000570939.2:c.3106C>T	ENSP00000461002.2:p.Gln1036Ter
ENST00000571763.5:n.261C>T
ENST00000574740.1:n.292C>T
ENST00000576720.1:n.3294C>T
NM_001079846.1:c.4357C>T	NP_001073315.1:p.Gln1453Ter
NM_004380.2:c.4471C>T	NP_004371.2:p.Gln1491Ter
XM_005255124.3:c.4426C>T	XP_005255181.1:p.Gln1476Ter
XM_005255125.3:c.4054C>T	XP_005255182.1:p.Gln1352Ter
XM_006720848.2:c.4210C>T	XP_006720911.1:p.Gln1404Ter
XM_011522380.1:c.4417C>T	XP_011520682.1:p.Gln1473Ter
XM_011522381.1:c.3718C>T	XP_011520683.1:p.Gln1240Ter
XM_005255124.4:c.4426C>T	XP_005255181.1:p.Gln1476Ter
XM_005255125.4:c.4054C>T	XP_005255182.1:p.Gln1352Ter
XM_006720848.3:c.4210C>T	XP_006720911.1:p.Gln1404Ter
XM_011522381.2:c.3718C>T	XP_011520683.1:p.Gln1240Ter
XM_017022944.1:c.4465C>T	XP_016878433.1:p.Gln1489Ter
NM_004380.3:c.4471C>T MANE Select	NP_004371.2:p.Gln1491Ter