Canonical Allele Identifier: CA394553913

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305564
• MyVariant Identifiers: chr16:g.3778851G>A (hg19) ; chr16:g.3728850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728850G>A , CM000678.2:g.3728850G>A	GRCh38
NC_000016.9:g.3778851G>A , CM000678.1:g.3778851G>A	GRCh37
NC_000016.8:g.3718852G>A	NCBI36
NG_009873.1:g.156271C>T
NG_009873.2:g.156864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6197C>T MANE Select	ENSP00000262367.5:p.Ala2066Val
ENST00000262367.9:c.6197C>T	ENSP00000262367.5:p.Ala2066Val
ENST00000382070.7:c.6083C>T	ENSP00000371502.3:p.Ala2028Val
NM_001079846.1:c.6083C>T	NP_001073315.1:p.Ala2028Val
NM_004380.2:c.6197C>T	NP_004371.2:p.Ala2066Val
XM_005255124.3:c.6152C>T	XP_005255181.1:p.Ala2051Val
XM_005255125.3:c.5780C>T	XP_005255182.1:p.Ala1927Val
XM_006720848.2:c.5936C>T	XP_006720911.1:p.Ala1979Val
XM_011522380.1:c.6143C>T	XP_011520682.1:p.Ala2048Val
XM_011522381.1:c.5444C>T	XP_011520683.1:p.Ala1815Val
XM_005255124.4:c.6152C>T	XP_005255181.1:p.Ala2051Val
XM_005255125.4:c.5780C>T	XP_005255182.1:p.Ala1927Val
XM_006720848.3:c.5936C>T	XP_006720911.1:p.Ala1979Val
XM_011522381.2:c.5444C>T	XP_011520683.1:p.Ala1815Val
XM_017022944.1:c.6191C>T	XP_016878433.1:p.Ala2064Val
NM_004380.3:c.6197C>T MANE Select	NP_004371.2:p.Ala2066Val