Canonical Allele Identifier: CA394550948

Gene: CREBBP

Linked Data

• dbSNP Id: rs1567259787
• gnomAD v4: 16-3728064-G-C
• MyVariant Identifiers: chr16:g.3778065G>C (hg19) ; chr16:g.3728064G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728064G>C , CM000678.2:g.3728064G>C	GRCh38
NC_000016.9:g.3778065G>C , CM000678.1:g.3778065G>C	GRCh37
NC_000016.8:g.3718066G>C	NCBI36
NG_009873.1:g.157057C>G
NG_009873.2:g.157650C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6983C>G MANE Select	ENSP00000262367.5:p.Ser2328Trp
ENST00000262367.9:c.6983C>G	ENSP00000262367.5:p.Ser2328Trp
ENST00000382070.7:c.6869C>G	ENSP00000371502.3:p.Ser2290Trp
NM_001079846.1:c.6869C>G	NP_001073315.1:p.Ser2290Trp
NM_004380.2:c.6983C>G	NP_004371.2:p.Ser2328Trp
XM_005255124.3:c.6938C>G	XP_005255181.1:p.Ser2313Trp
XM_005255125.3:c.6566C>G	XP_005255182.1:p.Ser2189Trp
XM_006720848.2:c.6722C>G	XP_006720911.1:p.Ser2241Trp
XM_011522380.1:c.6929C>G	XP_011520682.1:p.Ser2310Trp
XM_011522381.1:c.6230C>G	XP_011520683.1:p.Ser2077Trp
XM_005255124.4:c.6938C>G	XP_005255181.1:p.Ser2313Trp
XM_005255125.4:c.6566C>G	XP_005255182.1:p.Ser2189Trp
XM_006720848.3:c.6722C>G	XP_006720911.1:p.Ser2241Trp
XM_011522381.2:c.6230C>G	XP_011520683.1:p.Ser2077Trp
XM_017022944.1:c.6977C>G	XP_016878433.1:p.Ser2326Trp
NM_004380.3:c.6983C>G MANE Select	NP_004371.2:p.Ser2328Trp