Canonical Allele Identifier: CA394568529

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3807808A>C (hg19) ; chr16:g.3757807A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757807A>C , CM000678.2:g.3757807A>C	GRCh38
NC_000016.9:g.3807808A>C , CM000678.1:g.3807808A>C	GRCh37
NC_000016.8:g.3747809A>C	NCBI36
NG_009873.1:g.127314T>G
NG_009873.2:g.127907T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3609+2T>G MANE Select	ENSP00000262367.5:n.3609+2T>G
ENST00000262367.9:c.3609+2T>G	ENSP00000262367.5:n.3609+2T>G
ENST00000382070.7:c.3495+2T>G	ENSP00000371502.3:n.3495+2T>G
ENST00000570939.2:c.2214+2T>G	ENSP00000461002.2:n.2214+2T>G
NM_001079846.1:c.3495+2T>G	NP_001073315.1:n.3495+2T>G
NM_004380.2:c.3609+2T>G	NP_004371.2:n.3609+2T>G
XM_005255124.3:c.3564+2T>G	XP_005255181.1:n.3564+2T>G
XM_005255125.3:c.3192+2T>G	XP_005255182.1:n.3192+2T>G
XM_006720848.2:c.3609+2T>G	XP_006720911.1:n.3609+2T>G
XM_011522380.1:c.3555+2T>G	XP_011520682.1:n.3555+2T>G
XM_011522381.1:c.2856+2T>G	XP_011520683.1:n.2856+2T>G
XM_011522382.1:c.3609+2T>G	XP_011520684.1:n.3609+2T>G
XM_005255124.4:c.3564+2T>G	XP_005255181.1:n.3564+2T>G
XM_005255125.4:c.3192+2T>G	XP_005255182.1:n.3192+2T>G
XM_006720848.3:c.3609+2T>G	XP_006720911.1:n.3609+2T>G
XM_011522381.2:c.2856+2T>G	XP_011520683.1:n.2856+2T>G
XM_011522382.3:c.3609+2T>G	XP_011520684.1:n.3609+2T>G
XM_017022944.1:c.3603+2T>G	XP_016878433.1:n.3603+2T>G
NM_004380.3:c.3609+2T>G MANE Select	NP_004371.2:n.3609+2T>G