Canonical Allele Identifier: CA394568540

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3807812T>C (hg19) ; chr16:g.3757811T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757811T>C , CM000678.2:g.3757811T>C	GRCh38
NC_000016.9:g.3807812T>C , CM000678.1:g.3807812T>C	GRCh37
NC_000016.8:g.3747813T>C	NCBI36
NG_009873.1:g.127310A>G
NG_009873.2:g.127903A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3607A>G MANE Select	ENSP00000262367.5:p.Lys1203Glu
ENST00000262367.9:c.3607A>G	ENSP00000262367.5:p.Lys1203Glu
ENST00000382070.7:c.3493A>G	ENSP00000371502.3:p.Lys1165Glu
ENST00000570939.2:c.2212A>G	ENSP00000461002.2:p.Lys738Glu
NM_001079846.1:c.3493A>G	NP_001073315.1:p.Lys1165Glu
NM_004380.2:c.3607A>G	NP_004371.2:p.Lys1203Glu
XM_005255124.3:c.3562A>G	XP_005255181.1:p.Lys1188Glu
XM_005255125.3:c.3190A>G	XP_005255182.1:p.Lys1064Glu
XM_006720848.2:c.3607A>G	XP_006720911.1:p.Lys1203Glu
XM_011522380.1:c.3553A>G	XP_011520682.1:p.Lys1185Glu
XM_011522381.1:c.2854A>G	XP_011520683.1:p.Lys952Glu
XM_011522382.1:c.3607A>G	XP_011520684.1:p.Lys1203Glu
XM_005255124.4:c.3562A>G	XP_005255181.1:p.Lys1188Glu
XM_005255125.4:c.3190A>G	XP_005255182.1:p.Lys1064Glu
XM_006720848.3:c.3607A>G	XP_006720911.1:p.Lys1203Glu
XM_011522381.2:c.2854A>G	XP_011520683.1:p.Lys952Glu
XM_011522382.3:c.3607A>G	XP_011520684.1:p.Lys1203Glu
XM_017022944.1:c.3601A>G	XP_016878433.1:p.Lys1201Glu
NM_004380.3:c.3607A>G MANE Select	NP_004371.2:p.Lys1203Glu