Canonical Allele Identifier: CA394551512

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3820849A>C (hg19) ; chr16:g.3770848A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770848A>C , CM000678.2:g.3770848A>C	GRCh38
NC_000016.9:g.3820849A>C , CM000678.1:g.3820849A>C	GRCh37
NC_000016.8:g.3760850A>C	NCBI36
NG_009873.1:g.114273T>G
NG_009873.2:g.114866T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2602T>G MANE Select	ENSP00000262367.5:p.Ser868Ala
ENST00000262367.9:c.2602T>G	ENSP00000262367.5:p.Ser868Ala
ENST00000382070.7:c.2488T>G	ENSP00000371502.3:p.Ser830Ala
ENST00000570939.2:c.1207T>G	ENSP00000461002.2:p.Ser403Ala
NM_001079846.1:c.2488T>G	NP_001073315.1:p.Ser830Ala
NM_004380.2:c.2602T>G	NP_004371.2:p.Ser868Ala
XM_005255124.3:c.2557T>G	XP_005255181.1:p.Ser853Ala
XM_005255125.3:c.2464-1495T>G	XP_005255182.1:n.2464-1495T>G
XM_006720848.2:c.2602T>G	XP_006720911.1:p.Ser868Ala
XM_011522380.1:c.2548T>G	XP_011520682.1:p.Ser850Ala
XM_011522381.1:c.1849T>G	XP_011520683.1:p.Ser617Ala
XM_011522382.1:c.2602T>G	XP_011520684.1:p.Ser868Ala
XM_005255124.4:c.2557T>G	XP_005255181.1:p.Ser853Ala
XM_005255125.4:c.2464-1495T>G	XP_005255182.1:n.2464-1495T>G
XM_006720848.3:c.2602T>G	XP_006720911.1:p.Ser868Ala
XM_011522381.2:c.1849T>G	XP_011520683.1:p.Ser617Ala
XM_011522382.3:c.2602T>G	XP_011520684.1:p.Ser868Ala
XM_017022944.1:c.2596T>G	XP_016878433.1:p.Ser866Ala
NM_004380.3:c.2602T>G MANE Select	NP_004371.2:p.Ser868Ala