Canonical Allele Identifier: CA394551344

Gene: CREBBP

Linked Data

• dbSNP Id: rs1415456438
• MyVariant Identifiers: chr16:g.3820808C>A (hg19) ; chr16:g.3770807C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770807C>A , CM000678.2:g.3770807C>A	GRCh38
NC_000016.9:g.3820808C>A , CM000678.1:g.3820808C>A	GRCh37
NC_000016.8:g.3760809C>A	NCBI36
NG_009873.1:g.114314G>T
NG_009873.2:g.114907G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2643G>T MANE Select	ENSP00000262367.5:p.Gln881His
ENST00000262367.9:c.2643G>T	ENSP00000262367.5:p.Gln881His
ENST00000382070.7:c.2529G>T	ENSP00000371502.3:p.Gln843His
ENST00000570939.2:c.1248G>T	ENSP00000461002.2:p.Gln416His
NM_001079846.1:c.2529G>T	NP_001073315.1:p.Gln843His
NM_004380.2:c.2643G>T	NP_004371.2:p.Gln881His
XM_005255124.3:c.2598G>T	XP_005255181.1:p.Gln866His
XM_005255125.3:c.2464-1454G>T	XP_005255182.1:n.2464-1454G>T
XM_006720848.2:c.2643G>T	XP_006720911.1:p.Gln881His
XM_011522380.1:c.2589G>T	XP_011520682.1:p.Gln863His
XM_011522381.1:c.1890G>T	XP_011520683.1:p.Gln630His
XM_011522382.1:c.2643G>T	XP_011520684.1:p.Gln881His
XM_005255124.4:c.2598G>T	XP_005255181.1:p.Gln866His
XM_005255125.4:c.2464-1454G>T	XP_005255182.1:n.2464-1454G>T
XM_006720848.3:c.2643G>T	XP_006720911.1:p.Gln881His
XM_011522381.2:c.1890G>T	XP_011520683.1:p.Gln630His
XM_011522382.3:c.2643G>T	XP_011520684.1:p.Gln881His
XM_017022944.1:c.2637G>T	XP_016878433.1:p.Gln879His
NM_004380.3:c.2643G>T MANE Select	NP_004371.2:p.Gln881His