Canonical Allele Identifier: CA394553758

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305051
• MyVariant Identifiers: chr16:g.3778779A>G (hg19) ; chr16:g.3728778A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728778A>G , CM000678.2:g.3728778A>G	GRCh38
NC_000016.9:g.3778779A>G , CM000678.1:g.3778779A>G	GRCh37
NC_000016.8:g.3718780A>G	NCBI36
NG_009873.1:g.156343T>C
NG_009873.2:g.156936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6269T>C MANE Select	ENSP00000262367.5:p.Leu2090Pro
ENST00000262367.9:c.6269T>C	ENSP00000262367.5:p.Leu2090Pro
ENST00000382070.7:c.6155T>C	ENSP00000371502.3:p.Leu2052Pro
NM_001079846.1:c.6155T>C	NP_001073315.1:p.Leu2052Pro
NM_004380.2:c.6269T>C	NP_004371.2:p.Leu2090Pro
XM_005255124.3:c.6224T>C	XP_005255181.1:p.Leu2075Pro
XM_005255125.3:c.5852T>C	XP_005255182.1:p.Leu1951Pro
XM_006720848.2:c.6008T>C	XP_006720911.1:p.Leu2003Pro
XM_011522380.1:c.6215T>C	XP_011520682.1:p.Leu2072Pro
XM_011522381.1:c.5516T>C	XP_011520683.1:p.Leu1839Pro
XM_005255124.4:c.6224T>C	XP_005255181.1:p.Leu2075Pro
XM_005255125.4:c.5852T>C	XP_005255182.1:p.Leu1951Pro
XM_006720848.3:c.6008T>C	XP_006720911.1:p.Leu2003Pro
XM_011522381.2:c.5516T>C	XP_011520683.1:p.Leu1839Pro
XM_017022944.1:c.6263T>C	XP_016878433.1:p.Leu2088Pro
NM_004380.3:c.6269T>C MANE Select	NP_004371.2:p.Leu2090Pro