Canonical Allele Identifier: CA394557742

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151312625
• MyVariant Identifiers: chr16:g.3779853C>A (hg19) ; chr16:g.3729852C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729852C>A , CM000678.2:g.3729852C>A	GRCh38
NC_000016.9:g.3779853C>A , CM000678.1:g.3779853C>A	GRCh37
NC_000016.8:g.3719854C>A	NCBI36
NG_009873.1:g.155269G>T
NG_009873.2:g.155862G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5195G>T MANE Select	ENSP00000262367.5:p.Cys1732Phe
ENST00000262367.9:c.5195G>T	ENSP00000262367.5:p.Cys1732Phe
ENST00000382070.7:c.5081G>T	ENSP00000371502.3:p.Cys1694Phe
NM_001079846.1:c.5081G>T	NP_001073315.1:p.Cys1694Phe
NM_004380.2:c.5195G>T	NP_004371.2:p.Cys1732Phe
XM_005255124.3:c.5150G>T	XP_005255181.1:p.Cys1717Phe
XM_005255125.3:c.4778G>T	XP_005255182.1:p.Cys1593Phe
XM_006720848.2:c.4934G>T	XP_006720911.1:p.Cys1645Phe
XM_011522380.1:c.5141G>T	XP_011520682.1:p.Cys1714Phe
XM_011522381.1:c.4442G>T	XP_011520683.1:p.Cys1481Phe
XM_005255124.4:c.5150G>T	XP_005255181.1:p.Cys1717Phe
XM_005255125.4:c.4778G>T	XP_005255182.1:p.Cys1593Phe
XM_006720848.3:c.4934G>T	XP_006720911.1:p.Cys1645Phe
XM_011522381.2:c.4442G>T	XP_011520683.1:p.Cys1481Phe
XM_017022944.1:c.5189G>T	XP_016878433.1:p.Cys1730Phe
NM_004380.3:c.5195G>T MANE Select	NP_004371.2:p.Cys1732Phe