Canonical Allele Identifier: CA7868921

Gene: CREBBP

Linked Data

• dbSNP Id: rs545097572
• ExAC: 16:3777774 G / C
• gnomAD v2: 16-3777774-G-C
• gnomAD v3: 16-3727773-G-C
• gnomAD v4: 16-3727773-G-C
• MyVariant Identifiers: chr16:g.3777774G>C (hg19) ; chr16:g.3727773G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727773G>C , CM000678.2:g.3727773G>C	GRCh38
NC_000016.9:g.3777774G>C , CM000678.1:g.3777774G>C	GRCh37
NC_000016.8:g.3717775G>C	NCBI36
NG_009873.1:g.157348C>G
NG_009873.2:g.157941C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7274C>G MANE Select	ENSP00000262367.5:p.Ser2425Cys
ENST00000262367.9:c.7274C>G	ENSP00000262367.5:p.Ser2425Cys
ENST00000382070.7:c.7160C>G	ENSP00000371502.3:p.Ser2387Cys
NM_001079846.1:c.7160C>G	NP_001073315.1:p.Ser2387Cys
NM_004380.2:c.7274C>G	NP_004371.2:p.Ser2425Cys
XM_005255124.3:c.7229C>G	XP_005255181.1:p.Ser2410Cys
XM_005255125.3:c.6857C>G	XP_005255182.1:p.Ser2286Cys
XM_006720848.2:c.7013C>G	XP_006720911.1:p.Ser2338Cys
XM_011522380.1:c.7220C>G	XP_011520682.1:p.Ser2407Cys
XM_011522381.1:c.6521C>G	XP_011520683.1:p.Ser2174Cys
XM_005255124.4:c.7229C>G	XP_005255181.1:p.Ser2410Cys
XM_005255125.4:c.6857C>G	XP_005255182.1:p.Ser2286Cys
XM_006720848.3:c.7013C>G	XP_006720911.1:p.Ser2338Cys
XM_011522381.2:c.6521C>G	XP_011520683.1:p.Ser2174Cys
XM_017022944.1:c.7268C>G	XP_016878433.1:p.Ser2423Cys
NM_004380.3:c.7274C>G MANE Select	NP_004371.2:p.Ser2425Cys