Canonical Allele Identifier: CA7869133

Gene: CREBBP

Linked Data

• dbSNP Id: rs772816432
• ExAC: 16:3778687 G / A
• gnomAD v2: 16-3778687-G-A
• gnomAD v4: 16-3728686-G-A
• MyVariant Identifiers: chr16:g.3778687G>A (hg19) ; chr16:g.3728686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728686G>A , CM000678.2:g.3728686G>A	GRCh38
NC_000016.9:g.3778687G>A , CM000678.1:g.3778687G>A	GRCh37
NC_000016.8:g.3718688G>A	NCBI36
NG_009873.1:g.156435C>T
NG_009873.2:g.157028C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6361C>T MANE Select	ENSP00000262367.5:p.Leu2121Phe
ENST00000262367.9:c.6361C>T	ENSP00000262367.5:p.Leu2121Phe
ENST00000382070.7:c.6247C>T	ENSP00000371502.3:p.Leu2083Phe
NM_001079846.1:c.6247C>T	NP_001073315.1:p.Leu2083Phe
NM_004380.2:c.6361C>T	NP_004371.2:p.Leu2121Phe
XM_005255124.3:c.6316C>T	XP_005255181.1:p.Leu2106Phe
XM_005255125.3:c.5944C>T	XP_005255182.1:p.Leu1982Phe
XM_006720848.2:c.6100C>T	XP_006720911.1:p.Leu2034Phe
XM_011522380.1:c.6307C>T	XP_011520682.1:p.Leu2103Phe
XM_011522381.1:c.5608C>T	XP_011520683.1:p.Leu1870Phe
XM_005255124.4:c.6316C>T	XP_005255181.1:p.Leu2106Phe
XM_005255125.4:c.5944C>T	XP_005255182.1:p.Leu1982Phe
XM_006720848.3:c.6100C>T	XP_006720911.1:p.Leu2034Phe
XM_011522381.2:c.5608C>T	XP_011520683.1:p.Leu1870Phe
XM_017022944.1:c.6355C>T	XP_016878433.1:p.Leu2119Phe
NM_004380.3:c.6361C>T MANE Select	NP_004371.2:p.Leu2121Phe