Canonical Allele Identifier: CA394554944

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779118A>C (hg19) ; chr16:g.3729117A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729117A>C , CM000678.2:g.3729117A>C	GRCh38
NC_000016.9:g.3779118A>C , CM000678.1:g.3779118A>C	GRCh37
NC_000016.8:g.3719119A>C	NCBI36
NG_009873.1:g.156004T>G
NG_009873.2:g.156597T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5930T>G MANE Select	ENSP00000262367.5:p.Ile1977Ser
ENST00000262367.9:c.5930T>G	ENSP00000262367.5:p.Ile1977Ser
ENST00000382070.7:c.5816T>G	ENSP00000371502.3:p.Ile1939Ser
NM_001079846.1:c.5816T>G	NP_001073315.1:p.Ile1939Ser
NM_004380.2:c.5930T>G	NP_004371.2:p.Ile1977Ser
XM_005255124.3:c.5885T>G	XP_005255181.1:p.Ile1962Ser
XM_005255125.3:c.5513T>G	XP_005255182.1:p.Ile1838Ser
XM_006720848.2:c.5669T>G	XP_006720911.1:p.Ile1890Ser
XM_011522380.1:c.5876T>G	XP_011520682.1:p.Ile1959Ser
XM_011522381.1:c.5177T>G	XP_011520683.1:p.Ile1726Ser
XM_005255124.4:c.5885T>G	XP_005255181.1:p.Ile1962Ser
XM_005255125.4:c.5513T>G	XP_005255182.1:p.Ile1838Ser
XM_006720848.3:c.5669T>G	XP_006720911.1:p.Ile1890Ser
XM_011522381.2:c.5177T>G	XP_011520683.1:p.Ile1726Ser
XM_017022944.1:c.5924T>G	XP_016878433.1:p.Ile1975Ser
NM_004380.3:c.5930T>G MANE Select	NP_004371.2:p.Ile1977Ser