Canonical Allele Identifier: CA394554891

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151307154
• gnomAD v4: 16-3729105-A-G
• MyVariant Identifiers: chr16:g.3779106A>G (hg19) ; chr16:g.3729105A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729105A>G , CM000678.2:g.3729105A>G	GRCh38
NC_000016.9:g.3779106A>G , CM000678.1:g.3779106A>G	GRCh37
NC_000016.8:g.3719107A>G	NCBI36
NG_009873.1:g.156016T>C
NG_009873.2:g.156609T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5942T>C MANE Select	ENSP00000262367.5:p.Met1981Thr
ENST00000262367.9:c.5942T>C	ENSP00000262367.5:p.Met1981Thr
ENST00000382070.7:c.5828T>C	ENSP00000371502.3:p.Met1943Thr
NM_001079846.1:c.5828T>C	NP_001073315.1:p.Met1943Thr
NM_004380.2:c.5942T>C	NP_004371.2:p.Met1981Thr
XM_005255124.3:c.5897T>C	XP_005255181.1:p.Met1966Thr
XM_005255125.3:c.5525T>C	XP_005255182.1:p.Met1842Thr
XM_006720848.2:c.5681T>C	XP_006720911.1:p.Met1894Thr
XM_011522380.1:c.5888T>C	XP_011520682.1:p.Met1963Thr
XM_011522381.1:c.5189T>C	XP_011520683.1:p.Met1730Thr
XM_005255124.4:c.5897T>C	XP_005255181.1:p.Met1966Thr
XM_005255125.4:c.5525T>C	XP_005255182.1:p.Met1842Thr
XM_006720848.3:c.5681T>C	XP_006720911.1:p.Met1894Thr
XM_011522381.2:c.5189T>C	XP_011520683.1:p.Met1730Thr
XM_017022944.1:c.5936T>C	XP_016878433.1:p.Met1979Thr
NM_004380.3:c.5942T>C MANE Select	NP_004371.2:p.Met1981Thr