Canonical Allele Identifier: CA394550872

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778047T>A (hg19) ; chr16:g.3728046T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728046T>A , CM000678.2:g.3728046T>A	GRCh38
NC_000016.9:g.3778047T>A , CM000678.1:g.3778047T>A	GRCh37
NC_000016.8:g.3718048T>A	NCBI36
NG_009873.1:g.157075A>T
NG_009873.2:g.157668A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7001A>T MANE Select	ENSP00000262367.5:p.Gln2334Leu
ENST00000262367.9:c.7001A>T	ENSP00000262367.5:p.Gln2334Leu
ENST00000382070.7:c.6887A>T	ENSP00000371502.3:p.Gln2296Leu
NM_001079846.1:c.6887A>T	NP_001073315.1:p.Gln2296Leu
NM_004380.2:c.7001A>T	NP_004371.2:p.Gln2334Leu
XM_005255124.3:c.6956A>T	XP_005255181.1:p.Gln2319Leu
XM_005255125.3:c.6584A>T	XP_005255182.1:p.Gln2195Leu
XM_006720848.2:c.6740A>T	XP_006720911.1:p.Gln2247Leu
XM_011522380.1:c.6947A>T	XP_011520682.1:p.Gln2316Leu
XM_011522381.1:c.6248A>T	XP_011520683.1:p.Gln2083Leu
XM_005255124.4:c.6956A>T	XP_005255181.1:p.Gln2319Leu
XM_005255125.4:c.6584A>T	XP_005255182.1:p.Gln2195Leu
XM_006720848.3:c.6740A>T	XP_006720911.1:p.Gln2247Leu
XM_011522381.2:c.6248A>T	XP_011520683.1:p.Gln2083Leu
XM_017022944.1:c.6995A>T	XP_016878433.1:p.Gln2332Leu
NM_004380.3:c.7001A>T MANE Select	NP_004371.2:p.Gln2334Leu