Canonical Allele Identifier: CA394564713

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 973218
• ClinVar RCV Id: RCV001249613
• dbSNP Id: rs200616542
• MyVariant Identifiers: chr16:g.3789597C>A (hg19) ; chr16:g.3739596C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739596C>A , CM000678.2:g.3739596C>A	GRCh38
NC_000016.9:g.3789597C>A , CM000678.1:g.3789597C>A	GRCh37
NC_000016.8:g.3729598C>A	NCBI36
NG_009873.1:g.145525G>T
NG_009873.2:g.146118G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4262G>T MANE Select	ENSP00000262367.5:p.Cys1421Phe
ENST00000262367.9:c.4262G>T	ENSP00000262367.5:p.Cys1421Phe
ENST00000382070.7:c.4148G>T	ENSP00000371502.3:p.Cys1383Phe
ENST00000570939.2:c.2897G>T	ENSP00000461002.2:p.Cys966Phe
ENST00000573517.6:c.568G>T
ENST00000574740.1:n.215+803G>T
ENST00000576720.1:n.3199G>T
NM_001079846.1:c.4148G>T	NP_001073315.1:p.Cys1383Phe
NM_004380.2:c.4262G>T	NP_004371.2:p.Cys1421Phe
XM_005255124.3:c.4217G>T	XP_005255181.1:p.Cys1406Phe
XM_005255125.3:c.3845G>T	XP_005255182.1:p.Cys1282Phe
XM_006720848.2:c.4133+803G>T	XP_006720911.1:n.4133+803G>T
XM_011522380.1:c.4208G>T	XP_011520682.1:p.Cys1403Phe
XM_011522381.1:c.3509G>T	XP_011520683.1:p.Cys1170Phe
XM_005255124.4:c.4217G>T	XP_005255181.1:p.Cys1406Phe
XM_005255125.4:c.3845G>T	XP_005255182.1:p.Cys1282Phe
XM_006720848.3:c.4133+803G>T	XP_006720911.1:n.4133+803G>T
XM_011522381.2:c.3509G>T	XP_011520683.1:p.Cys1170Phe
XM_017022944.1:c.4256G>T	XP_016878433.1:p.Cys1419Phe
NM_004380.3:c.4262G>T MANE Select	NP_004371.2:p.Cys1421Phe