Canonical Allele Identifier: CA394551507

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3820848G>A (hg19) ; chr16:g.3770847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770847G>A , CM000678.2:g.3770847G>A	GRCh38
NC_000016.9:g.3820848G>A , CM000678.1:g.3820848G>A	GRCh37
NC_000016.8:g.3760849G>A	NCBI36
NG_009873.1:g.114274C>T
NG_009873.2:g.114867C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2603C>T MANE Select	ENSP00000262367.5:p.Ser868Phe
ENST00000262367.9:c.2603C>T	ENSP00000262367.5:p.Ser868Phe
ENST00000382070.7:c.2489C>T	ENSP00000371502.3:p.Ser830Phe
ENST00000570939.2:c.1208C>T	ENSP00000461002.2:p.Ser403Phe
NM_001079846.1:c.2489C>T	NP_001073315.1:p.Ser830Phe
NM_004380.2:c.2603C>T	NP_004371.2:p.Ser868Phe
XM_005255124.3:c.2558C>T	XP_005255181.1:p.Ser853Phe
XM_005255125.3:c.2464-1494C>T	XP_005255182.1:n.2464-1494C>T
XM_006720848.2:c.2603C>T	XP_006720911.1:p.Ser868Phe
XM_011522380.1:c.2549C>T	XP_011520682.1:p.Ser850Phe
XM_011522381.1:c.1850C>T	XP_011520683.1:p.Ser617Phe
XM_011522382.1:c.2603C>T	XP_011520684.1:p.Ser868Phe
XM_005255124.4:c.2558C>T	XP_005255181.1:p.Ser853Phe
XM_005255125.4:c.2464-1494C>T	XP_005255182.1:n.2464-1494C>T
XM_006720848.3:c.2603C>T	XP_006720911.1:p.Ser868Phe
XM_011522381.2:c.1850C>T	XP_011520683.1:p.Ser617Phe
XM_011522382.3:c.2603C>T	XP_011520684.1:p.Ser868Phe
XM_017022944.1:c.2597C>T	XP_016878433.1:p.Ser866Phe
NM_004380.3:c.2603C>T MANE Select	NP_004371.2:p.Ser868Phe