Canonical Allele Identifier: CA394568541

Gene: CREBBP

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3607A>C MANE Select	ENSP00000262367.5:p.Lys1203Gln
ENST00000262367.9:c.3607A>C	ENSP00000262367.5:p.Lys1203Gln
ENST00000382070.7:c.3493A>C	ENSP00000371502.3:p.Lys1165Gln
ENST00000570939.2:c.2212A>C	ENSP00000461002.2:p.Lys738Gln
NM_001079846.1:c.3493A>C	NP_001073315.1:p.Lys1165Gln
NM_004380.2:c.3607A>C	NP_004371.2:p.Lys1203Gln
XM_005255124.3:c.3562A>C	XP_005255181.1:p.Lys1188Gln
XM_005255125.3:c.3190A>C	XP_005255182.1:p.Lys1064Gln
XM_006720848.2:c.3607A>C	XP_006720911.1:p.Lys1203Gln
XM_011522380.1:c.3553A>C	XP_011520682.1:p.Lys1185Gln
XM_011522381.1:c.2854A>C	XP_011520683.1:p.Lys952Gln
XM_011522382.1:c.3607A>C	XP_011520684.1:p.Lys1203Gln
XM_005255124.4:c.3562A>C	XP_005255181.1:p.Lys1188Gln
XM_005255125.4:c.3190A>C	XP_005255182.1:p.Lys1064Gln
XM_006720848.3:c.3607A>C	XP_006720911.1:p.Lys1203Gln
XM_011522381.2:c.2854A>C	XP_011520683.1:p.Lys952Gln
XM_011522382.3:c.3607A>C	XP_011520684.1:p.Lys1203Gln
XM_017022944.1:c.3601A>C	XP_016878433.1:p.Lys1201Gln
NM_004380.3:c.3607A>C MANE Select	NP_004371.2:p.Lys1203Gln