Canonical Allele Identifier: CA394553939

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778863A>G (hg19) ; chr16:g.3728862A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728862A>G , CM000678.2:g.3728862A>G	GRCh38
NC_000016.9:g.3778863A>G , CM000678.1:g.3778863A>G	GRCh37
NC_000016.8:g.3718864A>G	NCBI36
NG_009873.1:g.156259T>C
NG_009873.2:g.156852T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6185T>C MANE Select	ENSP00000262367.5:p.Ile2062Thr
ENST00000262367.9:c.6185T>C	ENSP00000262367.5:p.Ile2062Thr
ENST00000382070.7:c.6071T>C	ENSP00000371502.3:p.Ile2024Thr
NM_001079846.1:c.6071T>C	NP_001073315.1:p.Ile2024Thr
NM_004380.2:c.6185T>C	NP_004371.2:p.Ile2062Thr
XM_005255124.3:c.6140T>C	XP_005255181.1:p.Ile2047Thr
XM_005255125.3:c.5768T>C	XP_005255182.1:p.Ile1923Thr
XM_006720848.2:c.5924T>C	XP_006720911.1:p.Ile1975Thr
XM_011522380.1:c.6131T>C	XP_011520682.1:p.Ile2044Thr
XM_011522381.1:c.5432T>C	XP_011520683.1:p.Ile1811Thr
XM_005255124.4:c.6140T>C	XP_005255181.1:p.Ile2047Thr
XM_005255125.4:c.5768T>C	XP_005255182.1:p.Ile1923Thr
XM_006720848.3:c.5924T>C	XP_006720911.1:p.Ile1975Thr
XM_011522381.2:c.5432T>C	XP_011520683.1:p.Ile1811Thr
XM_017022944.1:c.6179T>C	XP_016878433.1:p.Ile2060Thr
NM_004380.3:c.6185T>C MANE Select	NP_004371.2:p.Ile2062Thr