Canonical Allele Identifier: CA277006808

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3767756A>C , CM000678.2:g.3767756A>C	GRCh38
NC_000016.9:g.3817757A>C , CM000678.1:g.3817757A>C	GRCh37
NC_000016.8:g.3757758A>C	NCBI36
NG_009873.1:g.117365T>G
NG_009873.2:g.117958T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3214T>G MANE Select	NP_004371.2:p.Ser1072Ala
ENST00000262367.10:c.3214T>G MANE Select	ENSP00000262367.5:p.Ser1072Ala
NM_001079846.1:c.3100T>G	NP_001073315.1:p.Ser1034Ala
NM_004380.2:c.3214T>G	NP_004371.2:p.Ser1072Ala
ENST00000262367.9:c.3214T>G	ENSP00000262367.5:p.Ser1072Ala
ENST00000382070.7:c.3100T>G	ENSP00000371502.3:p.Ser1034Ala
ENST00000570939.2:c.1819T>G	ENSP00000461002.2:p.Ser607Ala
ENST00000573672.1:n.468T>G
XM_005255124.3:c.3169T>G	XP_005255181.1:p.Ser1057Ala
XM_005255124.4:c.3169T>G	XP_005255181.1:p.Ser1057Ala
XM_005255125.3:c.2797T>G	XP_005255182.1:p.Ser933Ala
XM_005255125.4:c.2797T>G	XP_005255182.1:p.Ser933Ala
XM_006720848.2:c.3214T>G	XP_006720911.1:p.Ser1072Ala
XM_006720848.3:c.3214T>G	XP_006720911.1:p.Ser1072Ala
XM_011522380.1:c.3160T>G	XP_011520682.1:p.Ser1054Ala
XM_011522381.1:c.2461T>G	XP_011520683.1:p.Ser821Ala
XM_011522381.2:c.2461T>G	XP_011520683.1:p.Ser821Ala
XM_011522382.1:c.3214T>G	XP_011520684.1:p.Ser1072Ala
XM_011522382.3:c.3214T>G	XP_011520684.1:p.Ser1072Ala
XM_017022944.1:c.3208T>G	XP_016878433.1:p.Ser1070Ala