Canonical Allele Identifier: CA493393204

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151298484
• gnomAD v4: 16-3727826-T-G
• MyVariant Identifiers: chr16:g.3777827T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727826T>G , CM000678.2:g.3727826T>G	GRCh38
NC_000016.9:g.3777827T>G , CM000678.1:g.3777827T>G	GRCh37
NC_000016.8:g.3717828T>G	NCBI36
NG_009873.1:g.157295A>C
NG_009873.2:g.157888A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7221A>C MANE Select	ENSP00000262367.5:p.Ala2407=
ENST00000262367.9:c.7221A>C	ENSP00000262367.5:p.Ala2407=
ENST00000382070.7:c.7107A>C	ENSP00000371502.3:p.Ala2369=
NM_001079846.1:c.7107A>C	NP_001073315.1:p.Ala2369=
NM_004380.2:c.7221A>C	NP_004371.2:p.Ala2407=
XM_005255124.3:c.7176A>C	XP_005255181.1:p.Ala2392=
XM_005255125.3:c.6804A>C	XP_005255182.1:p.Ala2268=
XM_006720848.2:c.6960A>C	XP_006720911.1:p.Ala2320=
XM_011522380.1:c.7167A>C	XP_011520682.1:p.Ala2389=
XM_011522381.1:c.6468A>C	XP_011520683.1:p.Ala2156=
XM_005255124.4:c.7176A>C	XP_005255181.1:p.Ala2392=
XM_005255125.4:c.6804A>C	XP_005255182.1:p.Ala2268=
XM_006720848.3:c.6960A>C	XP_006720911.1:p.Ala2320=
XM_011522381.2:c.6468A>C	XP_011520683.1:p.Ala2156=
XM_017022944.1:c.7215A>C	XP_016878433.1:p.Ala2405=
NM_004380.3:c.7221A>C MANE Select	NP_004371.2:p.Ala2407=