Canonical Allele Identifier: CA493280076

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3739586-T-G
• MyVariant Identifiers: chr16:g.3789587T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739586T>G , CM000678.2:g.3739586T>G	GRCh38
NC_000016.9:g.3789587T>G , CM000678.1:g.3789587T>G	GRCh37
NC_000016.8:g.3729588T>G	NCBI36
NG_009873.1:g.145535A>C
NG_009873.2:g.146128A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4272A>C MANE Select	ENSP00000262367.5:p.Pro1424=
ENST00000262367.9:c.4272A>C	ENSP00000262367.5:p.Pro1424=
ENST00000382070.7:c.4158A>C	ENSP00000371502.3:p.Pro1386=
ENST00000570939.2:c.2907A>C	ENSP00000461002.2:p.Pro969=
ENST00000573517.6:c.578A>C
ENST00000574740.1:n.215+813A>C
ENST00000576720.1:n.3209A>C
NM_001079846.1:c.4158A>C	NP_001073315.1:p.Pro1386=
NM_004380.2:c.4272A>C	NP_004371.2:p.Pro1424=
XM_005255124.3:c.4227A>C	XP_005255181.1:p.Pro1409=
XM_005255125.3:c.3855A>C	XP_005255182.1:p.Pro1285=
XM_006720848.2:c.4133+813A>C	XP_006720911.1:n.4133+813A>C
XM_011522380.1:c.4218A>C	XP_011520682.1:p.Pro1406=
XM_011522381.1:c.3519A>C	XP_011520683.1:p.Pro1173=
XM_005255124.4:c.4227A>C	XP_005255181.1:p.Pro1409=
XM_005255125.4:c.3855A>C	XP_005255182.1:p.Pro1285=
XM_006720848.3:c.4133+813A>C	XP_006720911.1:n.4133+813A>C
XM_011522381.2:c.3519A>C	XP_011520683.1:p.Pro1173=
XM_017022944.1:c.4266A>C	XP_016878433.1:p.Pro1422=
NM_004380.3:c.4272A>C MANE Select	NP_004371.2:p.Pro1424=