Canonical Allele Identifier: CA394550801

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778029C>A (hg19) ; chr16:g.3728028C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728028C>A , CM000678.2:g.3728028C>A	GRCh38
NC_000016.9:g.3778029C>A , CM000678.1:g.3778029C>A	GRCh37
NC_000016.8:g.3718030C>A	NCBI36
NG_009873.1:g.157093G>T
NG_009873.2:g.157686G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7019G>T MANE Select	ENSP00000262367.5:p.Ser2340Ile
ENST00000262367.9:c.7019G>T	ENSP00000262367.5:p.Ser2340Ile
ENST00000382070.7:c.6905G>T	ENSP00000371502.3:p.Ser2302Ile
NM_001079846.1:c.6905G>T	NP_001073315.1:p.Ser2302Ile
NM_004380.2:c.7019G>T	NP_004371.2:p.Ser2340Ile
XM_005255124.3:c.6974G>T	XP_005255181.1:p.Ser2325Ile
XM_005255125.3:c.6602G>T	XP_005255182.1:p.Ser2201Ile
XM_006720848.2:c.6758G>T	XP_006720911.1:p.Ser2253Ile
XM_011522380.1:c.6965G>T	XP_011520682.1:p.Ser2322Ile
XM_011522381.1:c.6266G>T	XP_011520683.1:p.Ser2089Ile
XM_005255124.4:c.6974G>T	XP_005255181.1:p.Ser2325Ile
XM_005255125.4:c.6602G>T	XP_005255182.1:p.Ser2201Ile
XM_006720848.3:c.6758G>T	XP_006720911.1:p.Ser2253Ile
XM_011522381.2:c.6266G>T	XP_011520683.1:p.Ser2089Ile
XM_017022944.1:c.7013G>T	XP_016878433.1:p.Ser2338Ile
NM_004380.3:c.7019G>T MANE Select	NP_004371.2:p.Ser2340Ile