Canonical Allele Identifier: CA7869136

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728704T>C , CM000678.2:g.3728704T>C	GRCh38
NC_000016.9:g.3778705T>C , CM000678.1:g.3778705T>C	GRCh37
NC_000016.8:g.3718706T>C	NCBI36
NG_009873.1:g.156417A>G
NG_009873.2:g.157010A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6343A>G MANE Select	NP_004371.2:p.Met2115Val
ENST00000262367.10:c.6343A>G MANE Select	ENSP00000262367.5:p.Met2115Val
NM_001079846.1:c.6229A>G	NP_001073315.1:p.Met2077Val
NM_004380.2:c.6343A>G	NP_004371.2:p.Met2115Val
ENST00000262367.9:c.6343A>G	ENSP00000262367.5:p.Met2115Val
ENST00000382070.7:c.6229A>G	ENSP00000371502.3:p.Met2077Val
XM_005255124.3:c.6298A>G	XP_005255181.1:p.Met2100Val
XM_005255124.4:c.6298A>G	XP_005255181.1:p.Met2100Val
XM_005255125.3:c.5926A>G	XP_005255182.1:p.Met1976Val
XM_005255125.4:c.5926A>G	XP_005255182.1:p.Met1976Val
XM_006720848.2:c.6082A>G	XP_006720911.1:p.Met2028Val
XM_006720848.3:c.6082A>G	XP_006720911.1:p.Met2028Val
XM_011522380.1:c.6289A>G	XP_011520682.1:p.Met2097Val
XM_011522381.1:c.5590A>G	XP_011520683.1:p.Met1864Val
XM_011522381.2:c.5590A>G	XP_011520683.1:p.Met1864Val
XM_017022944.1:c.6337A>G	XP_016878433.1:p.Met2113Val