Canonical Allele Identifier: CA2731625325

Gene: CREBBP

Linked Data

• dbSNP Id: rs1480236223

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777946C>G , CM000678.2:g.3777946C>G	GRCh38
NC_000016.9:g.3827947C>G , CM000678.1:g.3827947C>G	GRCh37
NC_000016.8:g.3767948C>G	NCBI36
NG_009873.1:g.107175G>C
NG_009873.2:g.107768G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2113+65G>C MANE Select	ENSP00000262367.5:n.2113+65G>C
ENST00000262367.9:c.2113+65G>C	ENSP00000262367.5:n.2113+65G>C
ENST00000382070.7:c.1999+65G>C	ENSP00000371502.3:n.1999+65G>C
ENST00000570939.2:c.718+65G>C	ENSP00000461002.2:n.718+65G>C
ENST00000571826.5:c.162+65G>C
ENST00000572134.1:c.426+65G>C
NM_001079846.1:c.1999+65G>C	NP_001073315.1:n.1999+65G>C
NM_004380.2:c.2113+65G>C	NP_004371.2:n.2113+65G>C
XM_005255124.3:c.2113+65G>C	XP_005255181.1:n.2113+65G>C
XM_005255125.3:c.2113+65G>C	XP_005255182.1:n.2113+65G>C
XM_006720848.2:c.2113+65G>C	XP_006720911.1:n.2113+65G>C
XM_011522380.1:c.2059+65G>C	XP_011520682.1:n.2059+65G>C
XM_011522381.1:c.1360+65G>C	XP_011520683.1:n.1360+65G>C
XM_011522382.1:c.2113+65G>C	XP_011520684.1:n.2113+65G>C
XM_005255124.4:c.2113+65G>C	XP_005255181.1:n.2113+65G>C
XM_005255125.4:c.2113+65G>C	XP_005255182.1:n.2113+65G>C
XM_006720848.3:c.2113+65G>C	XP_006720911.1:n.2113+65G>C
XM_011522381.2:c.1360+65G>C	XP_011520683.1:n.1360+65G>C
XM_011522382.3:c.2113+65G>C	XP_011520684.1:n.2113+65G>C
XM_017022944.1:c.2113+65G>C	XP_016878433.1:n.2113+65G>C
NM_004380.3:c.2113+65G>C MANE Select	NP_004371.2:n.2113+65G>C