Canonical Allele Identifier: CA276970977

Gene: CREBBP

Linked Data

• dbSNP Id: rs1004921860
• gnomAD v4: 16-3727801-T-C
• MyVariant Identifiers: chr16:g.3777802T>C (hg19) ; chr16:g.3727801T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727801T>C , CM000678.2:g.3727801T>C	GRCh38
NC_000016.9:g.3777802T>C , CM000678.1:g.3777802T>C	GRCh37
NC_000016.8:g.3717803T>C	NCBI36
NG_009873.1:g.157320A>G
NG_009873.2:g.157913A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7246A>G MANE Select	ENSP00000262367.5:p.Ser2416Gly
ENST00000262367.9:c.7246A>G	ENSP00000262367.5:p.Ser2416Gly
ENST00000382070.7:c.7132A>G	ENSP00000371502.3:p.Ser2378Gly
NM_001079846.1:c.7132A>G	NP_001073315.1:p.Ser2378Gly
NM_004380.2:c.7246A>G	NP_004371.2:p.Ser2416Gly
XM_005255124.3:c.7201A>G	XP_005255181.1:p.Ser2401Gly
XM_005255125.3:c.6829A>G	XP_005255182.1:p.Ser2277Gly
XM_006720848.2:c.6985A>G	XP_006720911.1:p.Ser2329Gly
XM_011522380.1:c.7192A>G	XP_011520682.1:p.Ser2398Gly
XM_011522381.1:c.6493A>G	XP_011520683.1:p.Ser2165Gly
XM_005255124.4:c.7201A>G	XP_005255181.1:p.Ser2401Gly
XM_005255125.4:c.6829A>G	XP_005255182.1:p.Ser2277Gly
XM_006720848.3:c.6985A>G	XP_006720911.1:p.Ser2329Gly
XM_011522381.2:c.6493A>G	XP_011520683.1:p.Ser2165Gly
XM_017022944.1:c.7240A>G	XP_016878433.1:p.Ser2414Gly
NM_004380.3:c.7246A>G MANE Select	NP_004371.2:p.Ser2416Gly