Canonical Allele Identifier: CA394554397

Gene: CREBBP

Linked Data

• dbSNP Id: rs1337306700
• MyVariant Identifiers: chr16:g.3778986C>G (hg19) ; chr16:g.3728985C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728985C>G , CM000678.2:g.3728985C>G	GRCh38
NC_000016.9:g.3778986C>G , CM000678.1:g.3778986C>G	GRCh37
NC_000016.8:g.3718987C>G	NCBI36
NG_009873.1:g.156136G>C
NG_009873.2:g.156729G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6062G>C MANE Select	ENSP00000262367.5:p.Trp2021Ser
ENST00000262367.9:c.6062G>C	ENSP00000262367.5:p.Trp2021Ser
ENST00000382070.7:c.5948G>C	ENSP00000371502.3:p.Trp1983Ser
NM_001079846.1:c.5948G>C	NP_001073315.1:p.Trp1983Ser
NM_004380.2:c.6062G>C	NP_004371.2:p.Trp2021Ser
XM_005255124.3:c.6017G>C	XP_005255181.1:p.Trp2006Ser
XM_005255125.3:c.5645G>C	XP_005255182.1:p.Trp1882Ser
XM_006720848.2:c.5801G>C	XP_006720911.1:p.Trp1934Ser
XM_011522380.1:c.6008G>C	XP_011520682.1:p.Trp2003Ser
XM_011522381.1:c.5309G>C	XP_011520683.1:p.Trp1770Ser
XM_005255124.4:c.6017G>C	XP_005255181.1:p.Trp2006Ser
XM_005255125.4:c.5645G>C	XP_005255182.1:p.Trp1882Ser
XM_006720848.3:c.5801G>C	XP_006720911.1:p.Trp1934Ser
XM_011522381.2:c.5309G>C	XP_011520683.1:p.Trp1770Ser
XM_017022944.1:c.6056G>C	XP_016878433.1:p.Trp2019Ser
NM_004380.3:c.6062G>C MANE Select	NP_004371.2:p.Trp2021Ser