Canonical Allele Identifier: CA493276444

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3900328C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850327C>G , CM000678.2:g.3850327C>G	GRCh38
NC_000016.9:g.3900328C>G , CM000678.1:g.3900328C>G	GRCh37
NC_000016.8:g.3840329C>G	NCBI36
NG_009873.1:g.34794G>C
NG_009873.2:g.35387G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.768G>C MANE Select	ENSP00000262367.5:p.Leu256=
ENST00000262367.9:c.768G>C	ENSP00000262367.5:p.Leu256=
ENST00000382070.7:c.768G>C	ENSP00000371502.3:p.Leu256=
NM_001079846.1:c.768G>C	NP_001073315.1:p.Leu256=
NM_004380.2:c.768G>C	NP_004371.2:p.Leu256=
XM_005255124.3:c.768G>C	XP_005255181.1:p.Leu256=
XM_005255125.3:c.768G>C	XP_005255182.1:p.Leu256=
XM_006720848.2:c.768G>C	XP_006720911.1:p.Leu256=
XM_011522380.1:c.714G>C	XP_011520682.1:p.Leu238=
XM_011522382.1:c.768G>C	XP_011520684.1:p.Leu256=
XM_005255124.4:c.768G>C	XP_005255181.1:p.Leu256=
XM_005255125.4:c.768G>C	XP_005255182.1:p.Leu256=
XM_006720848.3:c.768G>C	XP_006720911.1:p.Leu256=
XM_011522382.3:c.768G>C	XP_011520684.1:p.Leu256=
XM_017022944.1:c.768G>C	XP_016878433.1:p.Leu256=
NM_004380.3:c.768G>C MANE Select	NP_004371.2:p.Leu256=