Canonical Allele Identifier: CA394556145

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1706219
• ClinVar RCV Id: RCV002284749
• dbSNP Id: rs1596787407
• MyVariant Identifiers: chr16:g.3779535C>T (hg19) ; chr16:g.3729534C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729534C>T , CM000678.2:g.3729534C>T	GRCh38
NC_000016.9:g.3779535C>T , CM000678.1:g.3779535C>T	GRCh37
NC_000016.8:g.3719536C>T	NCBI36
NG_009873.1:g.155587G>A
NG_009873.2:g.156180G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5513G>A MANE Select	ENSP00000262367.5:p.Cys1838Tyr
ENST00000262367.9:c.5513G>A	ENSP00000262367.5:p.Cys1838Tyr
ENST00000382070.7:c.5399G>A	ENSP00000371502.3:p.Cys1800Tyr
NM_001079846.1:c.5399G>A	NP_001073315.1:p.Cys1800Tyr
NM_004380.2:c.5513G>A	NP_004371.2:p.Cys1838Tyr
XM_005255124.3:c.5468G>A	XP_005255181.1:p.Cys1823Tyr
XM_005255125.3:c.5096G>A	XP_005255182.1:p.Cys1699Tyr
XM_006720848.2:c.5252G>A	XP_006720911.1:p.Cys1751Tyr
XM_011522380.1:c.5459G>A	XP_011520682.1:p.Cys1820Tyr
XM_011522381.1:c.4760G>A	XP_011520683.1:p.Cys1587Tyr
XM_005255124.4:c.5468G>A	XP_005255181.1:p.Cys1823Tyr
XM_005255125.4:c.5096G>A	XP_005255182.1:p.Cys1699Tyr
XM_006720848.3:c.5252G>A	XP_006720911.1:p.Cys1751Tyr
XM_011522381.2:c.4760G>A	XP_011520683.1:p.Cys1587Tyr
XM_017022944.1:c.5507G>A	XP_016878433.1:p.Cys1836Tyr
NM_004380.3:c.5513G>A MANE Select	NP_004371.2:p.Cys1838Tyr