Canonical Allele Identifier: CA394557024

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311303
• MyVariant Identifiers: chr16:g.3779673A>T (hg19) ; chr16:g.3729672A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729672A>T , CM000678.2:g.3729672A>T	GRCh38
NC_000016.9:g.3779673A>T , CM000678.1:g.3779673A>T	GRCh37
NC_000016.8:g.3719674A>T	NCBI36
NG_009873.1:g.155449T>A
NG_009873.2:g.156042T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5375T>A MANE Select	ENSP00000262367.5:p.Leu1792Gln
ENST00000262367.9:c.5375T>A	ENSP00000262367.5:p.Leu1792Gln
ENST00000382070.7:c.5261T>A	ENSP00000371502.3:p.Leu1754Gln
NM_001079846.1:c.5261T>A	NP_001073315.1:p.Leu1754Gln
NM_004380.2:c.5375T>A	NP_004371.2:p.Leu1792Gln
XM_005255124.3:c.5330T>A	XP_005255181.1:p.Leu1777Gln
XM_005255125.3:c.4958T>A	XP_005255182.1:p.Leu1653Gln
XM_006720848.2:c.5114T>A	XP_006720911.1:p.Leu1705Gln
XM_011522380.1:c.5321T>A	XP_011520682.1:p.Leu1774Gln
XM_011522381.1:c.4622T>A	XP_011520683.1:p.Leu1541Gln
XM_005255124.4:c.5330T>A	XP_005255181.1:p.Leu1777Gln
XM_005255125.4:c.4958T>A	XP_005255182.1:p.Leu1653Gln
XM_006720848.3:c.5114T>A	XP_006720911.1:p.Leu1705Gln
XM_011522381.2:c.4622T>A	XP_011520683.1:p.Leu1541Gln
XM_017022944.1:c.5369T>A	XP_016878433.1:p.Leu1790Gln
NM_004380.3:c.5375T>A MANE Select	NP_004371.2:p.Leu1792Gln