Canonical Allele Identifier: CA394553470

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778646G>T (hg19) ; chr16:g.3728645G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728645G>T , CM000678.2:g.3728645G>T	GRCh38
NC_000016.9:g.3778646G>T , CM000678.1:g.3778646G>T	GRCh37
NC_000016.8:g.3718647G>T	NCBI36
NG_009873.1:g.156476C>A
NG_009873.2:g.157069C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6402C>A MANE Select	ENSP00000262367.5:p.His2134Gln
ENST00000262367.9:c.6402C>A	ENSP00000262367.5:p.His2134Gln
ENST00000382070.7:c.6288C>A	ENSP00000371502.3:p.His2096Gln
NM_001079846.1:c.6288C>A	NP_001073315.1:p.His2096Gln
NM_004380.2:c.6402C>A	NP_004371.2:p.His2134Gln
XM_005255124.3:c.6357C>A	XP_005255181.1:p.His2119Gln
XM_005255125.3:c.5985C>A	XP_005255182.1:p.His1995Gln
XM_006720848.2:c.6141C>A	XP_006720911.1:p.His2047Gln
XM_011522380.1:c.6348C>A	XP_011520682.1:p.His2116Gln
XM_011522381.1:c.5649C>A	XP_011520683.1:p.His1883Gln
XM_005255124.4:c.6357C>A	XP_005255181.1:p.His2119Gln
XM_005255125.4:c.5985C>A	XP_005255182.1:p.His1995Gln
XM_006720848.3:c.6141C>A	XP_006720911.1:p.His2047Gln
XM_011522381.2:c.5649C>A	XP_011520683.1:p.His1883Gln
XM_017022944.1:c.6396C>A	XP_016878433.1:p.His2132Gln
NM_004380.3:c.6402C>A MANE Select	NP_004371.2:p.His2134Gln