Canonical Allele Identifier: CA493393690

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305434
• MyVariant Identifiers: chr16:g.3778829G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728828G>C , CM000678.2:g.3728828G>C	GRCh38
NC_000016.9:g.3778829G>C , CM000678.1:g.3778829G>C	GRCh37
NC_000016.8:g.3718830G>C	NCBI36
NG_009873.1:g.156293C>G
NG_009873.2:g.156886C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6219C>G MANE Select	ENSP00000262367.5:p.Thr2073=
ENST00000262367.9:c.6219C>G	ENSP00000262367.5:p.Thr2073=
ENST00000382070.7:c.6105C>G	ENSP00000371502.3:p.Thr2035=
NM_001079846.1:c.6105C>G	NP_001073315.1:p.Thr2035=
NM_004380.2:c.6219C>G	NP_004371.2:p.Thr2073=
XM_005255124.3:c.6174C>G	XP_005255181.1:p.Thr2058=
XM_005255125.3:c.5802C>G	XP_005255182.1:p.Thr1934=
XM_006720848.2:c.5958C>G	XP_006720911.1:p.Thr1986=
XM_011522380.1:c.6165C>G	XP_011520682.1:p.Thr2055=
XM_011522381.1:c.5466C>G	XP_011520683.1:p.Thr1822=
XM_005255124.4:c.6174C>G	XP_005255181.1:p.Thr2058=
XM_005255125.4:c.5802C>G	XP_005255182.1:p.Thr1934=
XM_006720848.3:c.5958C>G	XP_006720911.1:p.Thr1986=
XM_011522381.2:c.5466C>G	XP_011520683.1:p.Thr1822=
XM_017022944.1:c.6213C>G	XP_016878433.1:p.Thr2071=
NM_004380.3:c.6219C>G MANE Select	NP_004371.2:p.Thr2073=