Canonical Allele Identifier: CA394551522

Gene: CREBBP

Linked Data

• dbSNP Id: rs1378993688
• MyVariant Identifiers: chr16:g.3820851G>C (hg19) ; chr16:g.3770850G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770850G>C , CM000678.2:g.3770850G>C	GRCh38
NC_000016.9:g.3820851G>C , CM000678.1:g.3820851G>C	GRCh37
NC_000016.8:g.3760852G>C	NCBI36
NG_009873.1:g.114271C>G
NG_009873.2:g.114864C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2600C>G MANE Select	ENSP00000262367.5:p.Pro867Arg
ENST00000262367.9:c.2600C>G	ENSP00000262367.5:p.Pro867Arg
ENST00000382070.7:c.2486C>G	ENSP00000371502.3:p.Pro829Arg
ENST00000570939.2:c.1205C>G	ENSP00000461002.2:p.Pro402Arg
NM_001079846.1:c.2486C>G	NP_001073315.1:p.Pro829Arg
NM_004380.2:c.2600C>G	NP_004371.2:p.Pro867Arg
XM_005255124.3:c.2555C>G	XP_005255181.1:p.Pro852Arg
XM_005255125.3:c.2464-1497C>G	XP_005255182.1:n.2464-1497C>G
XM_006720848.2:c.2600C>G	XP_006720911.1:p.Pro867Arg
XM_011522380.1:c.2546C>G	XP_011520682.1:p.Pro849Arg
XM_011522381.1:c.1847C>G	XP_011520683.1:p.Pro616Arg
XM_011522382.1:c.2600C>G	XP_011520684.1:p.Pro867Arg
XM_005255124.4:c.2555C>G	XP_005255181.1:p.Pro852Arg
XM_005255125.4:c.2464-1497C>G	XP_005255182.1:n.2464-1497C>G
XM_006720848.3:c.2600C>G	XP_006720911.1:p.Pro867Arg
XM_011522381.2:c.1847C>G	XP_011520683.1:p.Pro616Arg
XM_011522382.3:c.2600C>G	XP_011520684.1:p.Pro867Arg
XM_017022944.1:c.2594C>G	XP_016878433.1:p.Pro865Arg
NM_004380.3:c.2600C>G MANE Select	NP_004371.2:p.Pro867Arg