Canonical Allele Identifier: CA394554012

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778885T>C (hg19) ; chr16:g.3728884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728884T>C , CM000678.2:g.3728884T>C	GRCh38
NC_000016.9:g.3778885T>C , CM000678.1:g.3778885T>C	GRCh37
NC_000016.8:g.3718886T>C	NCBI36
NG_009873.1:g.156237A>G
NG_009873.2:g.156830A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6163A>G MANE Select	ENSP00000262367.5:p.Ser2055Gly
ENST00000262367.9:c.6163A>G	ENSP00000262367.5:p.Ser2055Gly
ENST00000382070.7:c.6049A>G	ENSP00000371502.3:p.Ser2017Gly
NM_001079846.1:c.6049A>G	NP_001073315.1:p.Ser2017Gly
NM_004380.2:c.6163A>G	NP_004371.2:p.Ser2055Gly
XM_005255124.3:c.6118A>G	XP_005255181.1:p.Ser2040Gly
XM_005255125.3:c.5746A>G	XP_005255182.1:p.Ser1916Gly
XM_006720848.2:c.5902A>G	XP_006720911.1:p.Ser1968Gly
XM_011522380.1:c.6109A>G	XP_011520682.1:p.Ser2037Gly
XM_011522381.1:c.5410A>G	XP_011520683.1:p.Ser1804Gly
XM_005255124.4:c.6118A>G	XP_005255181.1:p.Ser2040Gly
XM_005255125.4:c.5746A>G	XP_005255182.1:p.Ser1916Gly
XM_006720848.3:c.5902A>G	XP_006720911.1:p.Ser1968Gly
XM_011522381.2:c.5410A>G	XP_011520683.1:p.Ser1804Gly
XM_017022944.1:c.6157A>G	XP_016878433.1:p.Ser2053Gly
NM_004380.3:c.6163A>G MANE Select	NP_004371.2:p.Ser2055Gly