Canonical Allele Identifier: CA493276025

Gene: CREBBP

Linked Data

• dbSNP Id: rs1174768907
• gnomAD v3: 16-3777650-G-C
• gnomAD v4: 16-3777650-G-C
• MyVariant Identifiers: chr16:g.3827651G>C (hg19) ; chr16:g.3777650G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777650G>C , CM000678.2:g.3777650G>C	GRCh38
NC_000016.9:g.3827651G>C , CM000678.1:g.3827651G>C	GRCh37
NC_000016.8:g.3767652G>C	NCBI36
NG_009873.1:g.107471C>G
NG_009873.2:g.108064C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2121C>G MANE Select	ENSP00000262367.5:p.Pro707=
ENST00000262367.9:c.2121C>G	ENSP00000262367.5:p.Pro707=
ENST00000382070.7:c.2007C>G	ENSP00000371502.3:p.Pro669=
ENST00000570939.2:c.726C>G	ENSP00000461002.2:p.Pro242=
ENST00000571826.5:c.170C>G
ENST00000572134.1:c.426+361C>G
NM_001079846.1:c.2007C>G	NP_001073315.1:p.Pro669=
NM_004380.2:c.2121C>G	NP_004371.2:p.Pro707=
XM_005255124.3:c.2113+361C>G	XP_005255181.1:n.2113+361C>G
XM_005255125.3:c.2121C>G	XP_005255182.1:p.Pro707=
XM_006720848.2:c.2121C>G	XP_006720911.1:p.Pro707=
XM_011522380.1:c.2067C>G	XP_011520682.1:p.Pro689=
XM_011522381.1:c.1368C>G	XP_011520683.1:p.Pro456=
XM_011522382.1:c.2121C>G	XP_011520684.1:p.Pro707=
XM_005255124.4:c.2113+361C>G	XP_005255181.1:n.2113+361C>G
XM_005255125.4:c.2121C>G	XP_005255182.1:p.Pro707=
XM_006720848.3:c.2121C>G	XP_006720911.1:p.Pro707=
XM_011522381.2:c.1368C>G	XP_011520683.1:p.Pro456=
XM_011522382.3:c.2121C>G	XP_011520684.1:p.Pro707=
XM_017022944.1:c.2121C>G	XP_016878433.1:p.Pro707=
NM_004380.3:c.2121C>G MANE Select	NP_004371.2:p.Pro707=