Canonical Allele Identifier: CA240724

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3767881G>A , CM000678.2:g.3767881G>A	GRCh38
NC_000016.9:g.3817882G>A , CM000678.1:g.3817882G>A	GRCh37
NC_000016.8:g.3757883G>A	NCBI36
NG_009873.1:g.117240C>T
NG_009873.2:g.117833C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3089C>T MANE Select	NP_004371.2:p.Ser1030Phe
ENST00000262367.10:c.3089C>T MANE Select	ENSP00000262367.5:p.Ser1030Phe
NM_001079846.1:c.2975C>T	NP_001073315.1:p.Ser992Phe
NM_004380.2:c.3089C>T	NP_004371.2:p.Ser1030Phe
ENST00000262367.9:c.3089C>T	ENSP00000262367.5:p.Ser1030Phe
ENST00000382070.7:c.2975C>T	ENSP00000371502.3:p.Ser992Phe
ENST00000570939.2:c.1694C>T	ENSP00000461002.2:p.Ser565Phe
ENST00000573672.1:n.343C>T
XM_005255124.3:c.3044C>T	XP_005255181.1:p.Ser1015Phe
XM_005255124.4:c.3044C>T	XP_005255181.1:p.Ser1015Phe
XM_005255125.3:c.2672C>T	XP_005255182.1:p.Ser891Phe
XM_005255125.4:c.2672C>T	XP_005255182.1:p.Ser891Phe
XM_006720848.2:c.3089C>T	XP_006720911.1:p.Ser1030Phe
XM_006720848.3:c.3089C>T	XP_006720911.1:p.Ser1030Phe
XM_011522380.1:c.3035C>T	XP_011520682.1:p.Ser1012Phe
XM_011522381.1:c.2336C>T	XP_011520683.1:p.Ser779Phe
XM_011522381.2:c.2336C>T	XP_011520683.1:p.Ser779Phe
XM_011522382.1:c.3089C>T	XP_011520684.1:p.Ser1030Phe
XM_011522382.3:c.3089C>T	XP_011520684.1:p.Ser1030Phe
XM_017022944.1:c.3083C>T	XP_016878433.1:p.Ser1028Phe