Canonical Allele Identifier: CA394565997

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3860679T>G (hg19) ; chr16:g.3810678T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810678T>G , CM000678.2:g.3810678T>G	GRCh38
NC_000016.9:g.3860679T>G , CM000678.1:g.3860679T>G	GRCh37
NC_000016.8:g.3800680T>G	NCBI36
NG_009873.1:g.74443A>C
NG_009873.2:g.75036A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.900A>C MANE Select	ENSP00000262367.5:p.Lys300Asn
ENST00000262367.9:c.900A>C	ENSP00000262367.5:p.Lys300Asn
ENST00000382070.7:c.900A>C	ENSP00000371502.3:p.Lys300Asn
NM_001079846.1:c.900A>C	NP_001073315.1:p.Lys300Asn
NM_004380.2:c.900A>C	NP_004371.2:p.Lys300Asn
XM_005255124.3:c.900A>C	XP_005255181.1:p.Lys300Asn
XM_005255125.3:c.900A>C	XP_005255182.1:p.Lys300Asn
XM_006720848.2:c.900A>C	XP_006720911.1:p.Lys300Asn
XM_011522380.1:c.846A>C	XP_011520682.1:p.Lys282Asn
XM_011522381.1:c.147A>C	XP_011520683.1:p.Lys49Asn
XM_011522382.1:c.900A>C	XP_011520684.1:p.Lys300Asn
XM_005255124.4:c.900A>C	XP_005255181.1:p.Lys300Asn
XM_005255125.4:c.900A>C	XP_005255182.1:p.Lys300Asn
XM_006720848.3:c.900A>C	XP_006720911.1:p.Lys300Asn
XM_011522381.2:c.147A>C	XP_011520683.1:p.Lys49Asn
XM_011522382.3:c.900A>C	XP_011520684.1:p.Lys300Asn
XM_017022944.1:c.900A>C	XP_016878433.1:p.Lys300Asn
NM_004380.3:c.900A>C MANE Select	NP_004371.2:p.Lys300Asn