Canonical Allele Identifier: CA394554454

Gene: CREBBP

Linked Data

• dbSNP Id: rs763996233
• gnomAD v2: 16-3828069-G-C
• MyVariant Identifiers: chr16:g.3828069G>C (hg19) ; chr16:g.3778068G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778068G>C , CM000678.2:g.3778068G>C	GRCh38
NC_000016.9:g.3828069G>C , CM000678.1:g.3828069G>C	GRCh37
NC_000016.8:g.3768070G>C	NCBI36
NG_009873.1:g.107053C>G
NG_009873.2:g.107646C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2056C>G MANE Select	ENSP00000262367.5:p.Pro686Ala
ENST00000262367.9:c.2056C>G	ENSP00000262367.5:p.Pro686Ala
ENST00000382070.7:c.1942C>G	ENSP00000371502.3:p.Pro648Ala
ENST00000570939.2:c.661C>G	ENSP00000461002.2:p.Pro221Ala
ENST00000571826.5:c.105C>G
ENST00000572134.1:c.369C>G
ENST00000634839.1:n.218C>G
NM_001079846.1:c.1942C>G	NP_001073315.1:p.Pro648Ala
NM_004380.2:c.2056C>G	NP_004371.2:p.Pro686Ala
XM_005255124.3:c.2056C>G	XP_005255181.1:p.Pro686Ala
XM_005255125.3:c.2056C>G	XP_005255182.1:p.Pro686Ala
XM_006720848.2:c.2056C>G	XP_006720911.1:p.Pro686Ala
XM_011522380.1:c.2002C>G	XP_011520682.1:p.Pro668Ala
XM_011522381.1:c.1303C>G	XP_011520683.1:p.Pro435Ala
XM_011522382.1:c.2056C>G	XP_011520684.1:p.Pro686Ala
XM_005255124.4:c.2056C>G	XP_005255181.1:p.Pro686Ala
XM_005255125.4:c.2056C>G	XP_005255182.1:p.Pro686Ala
XM_006720848.3:c.2056C>G	XP_006720911.1:p.Pro686Ala
XM_011522381.2:c.1303C>G	XP_011520683.1:p.Pro435Ala
XM_011522382.3:c.2056C>G	XP_011520684.1:p.Pro686Ala
XM_017022944.1:c.2056C>G	XP_016878433.1:p.Pro686Ala
NM_004380.3:c.2056C>G MANE Select	NP_004371.2:p.Pro686Ala