Canonical Allele Identifier: CA493393419

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778004A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728003A>C , CM000678.2:g.3728003A>C	GRCh38
NC_000016.9:g.3778004A>C , CM000678.1:g.3778004A>C	GRCh37
NC_000016.8:g.3718005A>C	NCBI36
NG_009873.1:g.157118T>G
NG_009873.2:g.157711T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7044T>G MANE Select	ENSP00000262367.5:p.Pro2348=
ENST00000262367.9:c.7044T>G	ENSP00000262367.5:p.Pro2348=
ENST00000382070.7:c.6930T>G	ENSP00000371502.3:p.Pro2310=
NM_001079846.1:c.6930T>G	NP_001073315.1:p.Pro2310=
NM_004380.2:c.7044T>G	NP_004371.2:p.Pro2348=
XM_005255124.3:c.6999T>G	XP_005255181.1:p.Pro2333=
XM_005255125.3:c.6627T>G	XP_005255182.1:p.Pro2209=
XM_006720848.2:c.6783T>G	XP_006720911.1:p.Pro2261=
XM_011522380.1:c.6990T>G	XP_011520682.1:p.Pro2330=
XM_011522381.1:c.6291T>G	XP_011520683.1:p.Pro2097=
XM_005255124.4:c.6999T>G	XP_005255181.1:p.Pro2333=
XM_005255125.4:c.6627T>G	XP_005255182.1:p.Pro2209=
XM_006720848.3:c.6783T>G	XP_006720911.1:p.Pro2261=
XM_011522381.2:c.6291T>G	XP_011520683.1:p.Pro2097=
XM_017022944.1:c.7038T>G	XP_016878433.1:p.Pro2346=
NM_004380.3:c.7044T>G MANE Select	NP_004371.2:p.Pro2348=