Canonical Allele Identifier: CA10586027

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729432A>G , CM000678.2:g.3729432A>G	GRCh38
NC_000016.9:g.3779433A>G , CM000678.1:g.3779433A>G	GRCh37
NC_000016.8:g.3719434A>G	NCBI36
NG_009873.1:g.155689T>C
NG_009873.2:g.156282T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5615T>C MANE Select	NP_004371.2:p.Met1872Thr
ENST00000262367.10:c.5615T>C MANE Select	ENSP00000262367.5:p.Met1872Thr
NM_001079846.1:c.5501T>C	NP_001073315.1:p.Met1834Thr
NM_004380.2:c.5615T>C	NP_004371.2:p.Met1872Thr
ENST00000262367.9:c.5615T>C	ENSP00000262367.5:p.Met1872Thr
ENST00000382070.7:c.5501T>C	ENSP00000371502.3:p.Met1834Thr
XM_005255124.3:c.5570T>C	XP_005255181.1:p.Met1857Thr
XM_005255124.4:c.5570T>C	XP_005255181.1:p.Met1857Thr
XM_005255125.3:c.5198T>C	XP_005255182.1:p.Met1733Thr
XM_005255125.4:c.5198T>C	XP_005255182.1:p.Met1733Thr
XM_006720848.2:c.5354T>C	XP_006720911.1:p.Met1785Thr
XM_006720848.3:c.5354T>C	XP_006720911.1:p.Met1785Thr
XM_011522380.1:c.5561T>C	XP_011520682.1:p.Met1854Thr
XM_011522381.1:c.4862T>C	XP_011520683.1:p.Met1621Thr
XM_011522381.2:c.4862T>C	XP_011520683.1:p.Met1621Thr
XM_017022944.1:c.5609T>C	XP_016878433.1:p.Met1870Thr