Canonical Allele Identifier: CA493394341

Gene: CREBBP

Linked Data

• dbSNP Id: rs1410273263
• gnomAD v2: 16-3779134-G-A
• gnomAD v4: 16-3729133-G-A
• MyVariant Identifiers: chr16:g.3779134G>A (hg19) ; chr16:g.3729133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729133G>A , CM000678.2:g.3729133G>A	GRCh38
NC_000016.9:g.3779134G>A , CM000678.1:g.3779134G>A	GRCh37
NC_000016.8:g.3719135G>A	NCBI36
NG_009873.1:g.155988C>T
NG_009873.2:g.156581C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5914C>T MANE Select	ENSP00000262367.5:p.Leu1972=
ENST00000262367.9:c.5914C>T	ENSP00000262367.5:p.Leu1972=
ENST00000382070.7:c.5800C>T	ENSP00000371502.3:p.Leu1934=
NM_001079846.1:c.5800C>T	NP_001073315.1:p.Leu1934=
NM_004380.2:c.5914C>T	NP_004371.2:p.Leu1972=
XM_005255124.3:c.5869C>T	XP_005255181.1:p.Leu1957=
XM_005255125.3:c.5497C>T	XP_005255182.1:p.Leu1833=
XM_006720848.2:c.5653C>T	XP_006720911.1:p.Leu1885=
XM_011522380.1:c.5860C>T	XP_011520682.1:p.Leu1954=
XM_011522381.1:c.5161C>T	XP_011520683.1:p.Leu1721=
XM_005255124.4:c.5869C>T	XP_005255181.1:p.Leu1957=
XM_005255125.4:c.5497C>T	XP_005255182.1:p.Leu1833=
XM_006720848.3:c.5653C>T	XP_006720911.1:p.Leu1885=
XM_011522381.2:c.5161C>T	XP_011520683.1:p.Leu1721=
XM_017022944.1:c.5908C>T	XP_016878433.1:p.Leu1970=
NM_004380.3:c.5914C>T MANE Select	NP_004371.2:p.Leu1972=