Canonical Allele Identifier: CA394554894

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3828163T>A (hg19) ; chr16:g.3778162T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778162T>A , CM000678.2:g.3778162T>A	GRCh38
NC_000016.9:g.3828163T>A , CM000678.1:g.3828163T>A	GRCh37
NC_000016.8:g.3768164T>A	NCBI36
NG_009873.1:g.106959A>T
NG_009873.2:g.107552A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1962A>T MANE Select	ENSP00000262367.5:p.Leu654Phe
ENST00000262367.9:c.1962A>T	ENSP00000262367.5:p.Leu654Phe
ENST00000382070.7:c.1848A>T	ENSP00000371502.3:p.Leu616Phe
ENST00000570939.2:c.567A>T	ENSP00000461002.2:p.Leu189Phe
ENST00000571826.5:c.11A>T
ENST00000572134.1:c.275A>T
ENST00000634839.1:n.124A>T
NM_001079846.1:c.1848A>T	NP_001073315.1:p.Leu616Phe
NM_004380.2:c.1962A>T	NP_004371.2:p.Leu654Phe
XM_005255124.3:c.1962A>T	XP_005255181.1:p.Leu654Phe
XM_005255125.3:c.1962A>T	XP_005255182.1:p.Leu654Phe
XM_006720848.2:c.1962A>T	XP_006720911.1:p.Leu654Phe
XM_011522380.1:c.1908A>T	XP_011520682.1:p.Leu636Phe
XM_011522381.1:c.1209A>T	XP_011520683.1:p.Leu403Phe
XM_011522382.1:c.1962A>T	XP_011520684.1:p.Leu654Phe
XM_005255124.4:c.1962A>T	XP_005255181.1:p.Leu654Phe
XM_005255125.4:c.1962A>T	XP_005255182.1:p.Leu654Phe
XM_006720848.3:c.1962A>T	XP_006720911.1:p.Leu654Phe
XM_011522381.2:c.1209A>T	XP_011520683.1:p.Leu403Phe
XM_011522382.3:c.1962A>T	XP_011520684.1:p.Leu654Phe
XM_017022944.1:c.1962A>T	XP_016878433.1:p.Leu654Phe
NM_004380.3:c.1962A>T MANE Select	NP_004371.2:p.Leu654Phe