Canonical Allele Identifier: CA394557250

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311827
• gnomAD v4: 16-3729742-G-A
• MyVariant Identifiers: chr16:g.3779743G>A (hg19) ; chr16:g.3729742G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729742G>A , CM000678.2:g.3729742G>A	GRCh38
NC_000016.9:g.3779743G>A , CM000678.1:g.3779743G>A	GRCh37
NC_000016.8:g.3719744G>A	NCBI36
NG_009873.1:g.155379C>T
NG_009873.2:g.155972C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5305C>T MANE Select	ENSP00000262367.5:p.Arg1769Trp
ENST00000262367.9:c.5305C>T	ENSP00000262367.5:p.Arg1769Trp
ENST00000382070.7:c.5191C>T	ENSP00000371502.3:p.Arg1731Trp
NM_001079846.1:c.5191C>T	NP_001073315.1:p.Arg1731Trp
NM_004380.2:c.5305C>T	NP_004371.2:p.Arg1769Trp
XM_005255124.3:c.5260C>T	XP_005255181.1:p.Arg1754Trp
XM_005255125.3:c.4888C>T	XP_005255182.1:p.Arg1630Trp
XM_006720848.2:c.5044C>T	XP_006720911.1:p.Arg1682Trp
XM_011522380.1:c.5251C>T	XP_011520682.1:p.Arg1751Trp
XM_011522381.1:c.4552C>T	XP_011520683.1:p.Arg1518Trp
XM_005255124.4:c.5260C>T	XP_005255181.1:p.Arg1754Trp
XM_005255125.4:c.4888C>T	XP_005255182.1:p.Arg1630Trp
XM_006720848.3:c.5044C>T	XP_006720911.1:p.Arg1682Trp
XM_011522381.2:c.4552C>T	XP_011520683.1:p.Arg1518Trp
XM_017022944.1:c.5299C>T	XP_016878433.1:p.Arg1767Trp
NM_004380.3:c.5305C>T MANE Select	NP_004371.2:p.Arg1769Trp