Canonical Allele Identifier: CA394550887

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728049-T-A
• MyVariant Identifiers: chr16:g.3778050T>A (hg19) ; chr16:g.3728049T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728049T>A , CM000678.2:g.3728049T>A	GRCh38
NC_000016.9:g.3778050T>A , CM000678.1:g.3778050T>A	GRCh37
NC_000016.8:g.3718051T>A	NCBI36
NG_009873.1:g.157072A>T
NG_009873.2:g.157665A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6998A>T MANE Select	ENSP00000262367.5:p.Gln2333Leu
ENST00000262367.9:c.6998A>T	ENSP00000262367.5:p.Gln2333Leu
ENST00000382070.7:c.6884A>T	ENSP00000371502.3:p.Gln2295Leu
NM_001079846.1:c.6884A>T	NP_001073315.1:p.Gln2295Leu
NM_004380.2:c.6998A>T	NP_004371.2:p.Gln2333Leu
XM_005255124.3:c.6953A>T	XP_005255181.1:p.Gln2318Leu
XM_005255125.3:c.6581A>T	XP_005255182.1:p.Gln2194Leu
XM_006720848.2:c.6737A>T	XP_006720911.1:p.Gln2246Leu
XM_011522380.1:c.6944A>T	XP_011520682.1:p.Gln2315Leu
XM_011522381.1:c.6245A>T	XP_011520683.1:p.Gln2082Leu
XM_005255124.4:c.6953A>T	XP_005255181.1:p.Gln2318Leu
XM_005255125.4:c.6581A>T	XP_005255182.1:p.Gln2194Leu
XM_006720848.3:c.6737A>T	XP_006720911.1:p.Gln2246Leu
XM_011522381.2:c.6245A>T	XP_011520683.1:p.Gln2082Leu
XM_017022944.1:c.6992A>T	XP_016878433.1:p.Gln2331Leu
NM_004380.3:c.6998A>T MANE Select	NP_004371.2:p.Gln2333Leu