Canonical Allele Identifier: CA394554166

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728922-A-G
• MyVariant Identifiers: chr16:g.3778923A>G (hg19) ; chr16:g.3728922A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728922A>G , CM000678.2:g.3728922A>G	GRCh38
NC_000016.9:g.3778923A>G , CM000678.1:g.3778923A>G	GRCh37
NC_000016.8:g.3718924A>G	NCBI36
NG_009873.1:g.156199T>C
NG_009873.2:g.156792T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6125T>C MANE Select	ENSP00000262367.5:p.Met2042Thr
ENST00000262367.9:c.6125T>C	ENSP00000262367.5:p.Met2042Thr
ENST00000382070.7:c.6011T>C	ENSP00000371502.3:p.Met2004Thr
NM_001079846.1:c.6011T>C	NP_001073315.1:p.Met2004Thr
NM_004380.2:c.6125T>C	NP_004371.2:p.Met2042Thr
XM_005255124.3:c.6080T>C	XP_005255181.1:p.Met2027Thr
XM_005255125.3:c.5708T>C	XP_005255182.1:p.Met1903Thr
XM_006720848.2:c.5864T>C	XP_006720911.1:p.Met1955Thr
XM_011522380.1:c.6071T>C	XP_011520682.1:p.Met2024Thr
XM_011522381.1:c.5372T>C	XP_011520683.1:p.Met1791Thr
XM_005255124.4:c.6080T>C	XP_005255181.1:p.Met2027Thr
XM_005255125.4:c.5708T>C	XP_005255182.1:p.Met1903Thr
XM_006720848.3:c.5864T>C	XP_006720911.1:p.Met1955Thr
XM_011522381.2:c.5372T>C	XP_011520683.1:p.Met1791Thr
XM_017022944.1:c.6119T>C	XP_016878433.1:p.Met2040Thr
NM_004380.3:c.6125T>C MANE Select	NP_004371.2:p.Met2042Thr