Canonical Allele Identifier: CA394553760

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305059
• MyVariant Identifiers: chr16:g.3778780G>A (hg19) ; chr16:g.3728779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728779G>A , CM000678.2:g.3728779G>A	GRCh38
NC_000016.9:g.3778780G>A , CM000678.1:g.3778780G>A	GRCh37
NC_000016.8:g.3718781G>A	NCBI36
NG_009873.1:g.156342C>T
NG_009873.2:g.156935C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6268C>T MANE Select	ENSP00000262367.5:p.Leu2090Phe
ENST00000262367.9:c.6268C>T	ENSP00000262367.5:p.Leu2090Phe
ENST00000382070.7:c.6154C>T	ENSP00000371502.3:p.Leu2052Phe
NM_001079846.1:c.6154C>T	NP_001073315.1:p.Leu2052Phe
NM_004380.2:c.6268C>T	NP_004371.2:p.Leu2090Phe
XM_005255124.3:c.6223C>T	XP_005255181.1:p.Leu2075Phe
XM_005255125.3:c.5851C>T	XP_005255182.1:p.Leu1951Phe
XM_006720848.2:c.6007C>T	XP_006720911.1:p.Leu2003Phe
XM_011522380.1:c.6214C>T	XP_011520682.1:p.Leu2072Phe
XM_011522381.1:c.5515C>T	XP_011520683.1:p.Leu1839Phe
XM_005255124.4:c.6223C>T	XP_005255181.1:p.Leu2075Phe
XM_005255125.4:c.5851C>T	XP_005255182.1:p.Leu1951Phe
XM_006720848.3:c.6007C>T	XP_006720911.1:p.Leu2003Phe
XM_011522381.2:c.5515C>T	XP_011520683.1:p.Leu1839Phe
XM_017022944.1:c.6262C>T	XP_016878433.1:p.Leu2088Phe
NM_004380.3:c.6268C>T MANE Select	NP_004371.2:p.Leu2090Phe