Canonical Allele Identifier: CA2631427092

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3777848-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777848C>A , CM000678.2:g.3777848C>A	GRCh38
NC_000016.9:g.3827849C>A , CM000678.1:g.3827849C>A	GRCh37
NC_000016.8:g.3767850C>A	NCBI36
NG_009873.1:g.107273G>T
NG_009873.2:g.107866G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2113+163G>T MANE Select	ENSP00000262367.5:n.2113+163G>T
ENST00000262367.9:c.2113+163G>T	ENSP00000262367.5:n.2113+163G>T
ENST00000382070.7:c.1999+163G>T	ENSP00000371502.3:n.1999+163G>T
ENST00000570939.2:c.718+163G>T	ENSP00000461002.2:n.718+163G>T
ENST00000571826.5:c.162+163G>T
ENST00000572134.1:c.426+163G>T
NM_001079846.1:c.1999+163G>T	NP_001073315.1:n.1999+163G>T
NM_004380.2:c.2113+163G>T	NP_004371.2:n.2113+163G>T
XM_005255124.3:c.2113+163G>T	XP_005255181.1:n.2113+163G>T
XM_005255125.3:c.2113+163G>T	XP_005255182.1:n.2113+163G>T
XM_006720848.2:c.2113+163G>T	XP_006720911.1:n.2113+163G>T
XM_011522380.1:c.2059+163G>T	XP_011520682.1:n.2059+163G>T
XM_011522381.1:c.1360+163G>T	XP_011520683.1:n.1360+163G>T
XM_011522382.1:c.2113+163G>T	XP_011520684.1:n.2113+163G>T
XM_005255124.4:c.2113+163G>T	XP_005255181.1:n.2113+163G>T
XM_005255125.4:c.2113+163G>T	XP_005255182.1:n.2113+163G>T
XM_006720848.3:c.2113+163G>T	XP_006720911.1:n.2113+163G>T
XM_011522381.2:c.1360+163G>T	XP_011520683.1:n.1360+163G>T
XM_011522382.3:c.2113+163G>T	XP_011520684.1:n.2113+163G>T
XM_017022944.1:c.2113+163G>T	XP_016878433.1:n.2113+163G>T
NM_004380.3:c.2113+163G>T MANE Select	NP_004371.2:n.2113+163G>T