Canonical Allele Identifier: CA7870037

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770640G>A , CM000678.2:g.3770640G>A	GRCh38
NC_000016.9:g.3820641G>A , CM000678.1:g.3820641G>A	GRCh37
NC_000016.8:g.3760642G>A	NCBI36
NG_009873.1:g.114481C>T
NG_009873.2:g.115074C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2810C>T MANE Select	NP_004371.2:p.Pro937Leu
ENST00000262367.10:c.2810C>T MANE Select	ENSP00000262367.5:p.Pro937Leu
NM_001079846.1:c.2696C>T	NP_001073315.1:p.Pro899Leu
NM_004380.2:c.2810C>T	NP_004371.2:p.Pro937Leu
ENST00000262367.9:c.2810C>T	ENSP00000262367.5:p.Pro937Leu
ENST00000382070.7:c.2696C>T	ENSP00000371502.3:p.Pro899Leu
ENST00000570939.2:c.1415C>T	ENSP00000461002.2:p.Pro472Leu
ENST00000573672.1:n.64C>T
XM_005255124.3:c.2765C>T	XP_005255181.1:p.Pro922Leu
XM_005255124.4:c.2765C>T	XP_005255181.1:p.Pro922Leu
XM_005255125.3:c.2464-1287C>T	XP_005255182.1:n.2464-1287C>T
XM_005255125.4:c.2464-1287C>T	XP_005255182.1:n.2464-1287C>T
XM_006720848.2:c.2810C>T	XP_006720911.1:p.Pro937Leu
XM_006720848.3:c.2810C>T	XP_006720911.1:p.Pro937Leu
XM_011522380.1:c.2756C>T	XP_011520682.1:p.Pro919Leu
XM_011522381.1:c.2057C>T	XP_011520683.1:p.Pro686Leu
XM_011522381.2:c.2057C>T	XP_011520683.1:p.Pro686Leu
XM_011522382.1:c.2810C>T	XP_011520684.1:p.Pro937Leu
XM_011522382.3:c.2810C>T	XP_011520684.1:p.Pro937Leu
XM_017022944.1:c.2804C>T	XP_016878433.1:p.Pro935Leu