Canonical Allele Identifier: CA394553878

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778833C>A (hg19) ; chr16:g.3728832C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728832C>A , CM000678.2:g.3728832C>A	GRCh38
NC_000016.9:g.3778833C>A , CM000678.1:g.3778833C>A	GRCh37
NC_000016.8:g.3718834C>A	NCBI36
NG_009873.1:g.156289G>T
NG_009873.2:g.156882G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6215G>T MANE Select	ENSP00000262367.5:p.Arg2072Leu
ENST00000262367.9:c.6215G>T	ENSP00000262367.5:p.Arg2072Leu
ENST00000382070.7:c.6101G>T	ENSP00000371502.3:p.Arg2034Leu
NM_001079846.1:c.6101G>T	NP_001073315.1:p.Arg2034Leu
NM_004380.2:c.6215G>T	NP_004371.2:p.Arg2072Leu
XM_005255124.3:c.6170G>T	XP_005255181.1:p.Arg2057Leu
XM_005255125.3:c.5798G>T	XP_005255182.1:p.Arg1933Leu
XM_006720848.2:c.5954G>T	XP_006720911.1:p.Arg1985Leu
XM_011522380.1:c.6161G>T	XP_011520682.1:p.Arg2054Leu
XM_011522381.1:c.5462G>T	XP_011520683.1:p.Arg1821Leu
XM_005255124.4:c.6170G>T	XP_005255181.1:p.Arg2057Leu
XM_005255125.4:c.5798G>T	XP_005255182.1:p.Arg1933Leu
XM_006720848.3:c.5954G>T	XP_006720911.1:p.Arg1985Leu
XM_011522381.2:c.5462G>T	XP_011520683.1:p.Arg1821Leu
XM_017022944.1:c.6209G>T	XP_016878433.1:p.Arg2070Leu
NM_004380.3:c.6215G>T MANE Select	NP_004371.2:p.Arg2072Leu