Canonical Allele Identifier: CA7868933

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2231442
• ClinVar RCV Id: RCV002708068
• dbSNP Id: rs372005280
• ExAC: 16:3777826 T / G
• gnomAD v2: 16-3777826-T-G
• gnomAD v4: 16-3727825-T-G
• MyVariant Identifiers: chr16:g.3777826T>G (hg19) ; chr16:g.3727825T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727825T>G , CM000678.2:g.3727825T>G	GRCh38
NC_000016.9:g.3777826T>G , CM000678.1:g.3777826T>G	GRCh37
NC_000016.8:g.3717827T>G	NCBI36
NG_009873.1:g.157296A>C
NG_009873.2:g.157889A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7222A>C MANE Select	ENSP00000262367.5:p.Met2408Leu
ENST00000262367.9:c.7222A>C	ENSP00000262367.5:p.Met2408Leu
ENST00000382070.7:c.7108A>C	ENSP00000371502.3:p.Met2370Leu
NM_001079846.1:c.7108A>C	NP_001073315.1:p.Met2370Leu
NM_004380.2:c.7222A>C	NP_004371.2:p.Met2408Leu
XM_005255124.3:c.7177A>C	XP_005255181.1:p.Met2393Leu
XM_005255125.3:c.6805A>C	XP_005255182.1:p.Met2269Leu
XM_006720848.2:c.6961A>C	XP_006720911.1:p.Met2321Leu
XM_011522380.1:c.7168A>C	XP_011520682.1:p.Met2390Leu
XM_011522381.1:c.6469A>C	XP_011520683.1:p.Met2157Leu
XM_005255124.4:c.7177A>C	XP_005255181.1:p.Met2393Leu
XM_005255125.4:c.6805A>C	XP_005255182.1:p.Met2269Leu
XM_006720848.3:c.6961A>C	XP_006720911.1:p.Met2321Leu
XM_011522381.2:c.6469A>C	XP_011520683.1:p.Met2157Leu
XM_017022944.1:c.7216A>C	XP_016878433.1:p.Met2406Leu
NM_004380.3:c.7222A>C MANE Select	NP_004371.2:p.Met2408Leu