Canonical Allele Identifier: CA394564021

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786800T>C (hg19) ; chr16:g.3736799T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736799T>C , CM000678.2:g.3736799T>C	GRCh38
NC_000016.9:g.3786800T>C , CM000678.1:g.3786800T>C	GRCh37
NC_000016.8:g.3726801T>C	NCBI36
NG_009873.1:g.148322A>G
NG_009873.2:g.148915A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4411A>G MANE Select	ENSP00000262367.5:p.Ile1471Val
ENST00000262367.9:c.4411A>G	ENSP00000262367.5:p.Ile1471Val
ENST00000382070.7:c.4297A>G	ENSP00000371502.3:p.Ile1433Val
ENST00000570939.2:c.3046A>G	ENSP00000461002.2:p.Ile1016Val
ENST00000571763.5:n.201A>G
ENST00000574740.1:n.232A>G
ENST00000576720.1:n.3234A>G
NM_001079846.1:c.4297A>G	NP_001073315.1:p.Ile1433Val
NM_004380.2:c.4411A>G	NP_004371.2:p.Ile1471Val
XM_005255124.3:c.4366A>G	XP_005255181.1:p.Ile1456Val
XM_005255125.3:c.3994A>G	XP_005255182.1:p.Ile1332Val
XM_006720848.2:c.4150A>G	XP_006720911.1:p.Ile1384Val
XM_011522380.1:c.4357A>G	XP_011520682.1:p.Ile1453Val
XM_011522381.1:c.3658A>G	XP_011520683.1:p.Ile1220Val
XM_005255124.4:c.4366A>G	XP_005255181.1:p.Ile1456Val
XM_005255125.4:c.3994A>G	XP_005255182.1:p.Ile1332Val
XM_006720848.3:c.4150A>G	XP_006720911.1:p.Ile1384Val
XM_011522381.2:c.3658A>G	XP_011520683.1:p.Ile1220Val
XM_017022944.1:c.4405A>G	XP_016878433.1:p.Ile1469Val
NM_004380.3:c.4411A>G MANE Select	NP_004371.2:p.Ile1471Val