Canonical Allele Identifier: CA493393632

Gene: CREBBP

Linked Data

• dbSNP Id: rs1428912044
• gnomAD v2: 16-3778733-T-A
• gnomAD v4: 16-3728732-T-A
• MyVariant Identifiers: chr16:g.3778733T>A (hg19) ; chr16:g.3728732T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728732T>A , CM000678.2:g.3728732T>A	GRCh38
NC_000016.9:g.3778733T>A , CM000678.1:g.3778733T>A	GRCh37
NC_000016.8:g.3718734T>A	NCBI36
NG_009873.1:g.156389A>T
NG_009873.2:g.156982A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6315A>T MANE Select	ENSP00000262367.5:p.Thr2105=
ENST00000262367.9:c.6315A>T	ENSP00000262367.5:p.Thr2105=
ENST00000382070.7:c.6201A>T	ENSP00000371502.3:p.Thr2067=
NM_001079846.1:c.6201A>T	NP_001073315.1:p.Thr2067=
NM_004380.2:c.6315A>T	NP_004371.2:p.Thr2105=
XM_005255124.3:c.6270A>T	XP_005255181.1:p.Thr2090=
XM_005255125.3:c.5898A>T	XP_005255182.1:p.Thr1966=
XM_006720848.2:c.6054A>T	XP_006720911.1:p.Thr2018=
XM_011522380.1:c.6261A>T	XP_011520682.1:p.Thr2087=
XM_011522381.1:c.5562A>T	XP_011520683.1:p.Thr1854=
XM_005255124.4:c.6270A>T	XP_005255181.1:p.Thr2090=
XM_005255125.4:c.5898A>T	XP_005255182.1:p.Thr1966=
XM_006720848.3:c.6054A>T	XP_006720911.1:p.Thr2018=
XM_011522381.2:c.5562A>T	XP_011520683.1:p.Thr1854=
XM_017022944.1:c.6309A>T	XP_016878433.1:p.Thr2103=
NM_004380.3:c.6315A>T MANE Select	NP_004371.2:p.Thr2105=