Canonical Allele Identifier: CA493280393

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3740488-G-A
• MyVariant Identifiers: chr16:g.3790489G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740488G>A , CM000678.2:g.3740488G>A	GRCh38
NC_000016.9:g.3790489G>A , CM000678.1:g.3790489G>A	GRCh37
NC_000016.8:g.3730490G>A	NCBI36
NG_009873.1:g.144633C>T
NG_009873.2:g.145226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4044C>T MANE Select	ENSP00000262367.5:p.Arg1348=
ENST00000262367.9:c.4044C>T	ENSP00000262367.5:p.Arg1348=
ENST00000382070.7:c.3930C>T	ENSP00000371502.3:p.Arg1310=
ENST00000570939.2:c.2679C>T	ENSP00000461002.2:p.Arg893=
ENST00000572569.1:n.508C>T
ENST00000573517.6:c.350C>T
ENST00000574740.1:n.126C>T
ENST00000576720.1:n.2981C>T
NM_001079846.1:c.3930C>T	NP_001073315.1:p.Arg1310=
NM_004380.2:c.4044C>T	NP_004371.2:p.Arg1348=
XM_005255124.3:c.3999C>T	XP_005255181.1:p.Arg1333=
XM_005255125.3:c.3627C>T	XP_005255182.1:p.Arg1209=
XM_006720848.2:c.4044C>T	XP_006720911.1:p.Arg1348=
XM_011522380.1:c.3990C>T	XP_011520682.1:p.Arg1330=
XM_011522381.1:c.3291C>T	XP_011520683.1:p.Arg1097=
XM_005255124.4:c.3999C>T	XP_005255181.1:p.Arg1333=
XM_005255125.4:c.3627C>T	XP_005255182.1:p.Arg1209=
XM_006720848.3:c.4044C>T	XP_006720911.1:p.Arg1348=
XM_011522381.2:c.3291C>T	XP_011520683.1:p.Arg1097=
XM_017022944.1:c.4038C>T	XP_016878433.1:p.Arg1346=
NM_004380.3:c.4044C>T MANE Select	NP_004371.2:p.Arg1348=