Canonical Allele Identifier: CA394562711

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736149A>T , CM000678.2:g.3736149A>T	GRCh38
NC_000016.9:g.3786150A>T , CM000678.1:g.3786150A>T	GRCh37
NC_000016.8:g.3726151A>T	NCBI36
NG_009873.1:g.148972T>A
NG_009873.2:g.149565T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4615T>A MANE Select	NP_004371.2:p.Tyr1539Asn
ENST00000262367.10:c.4615T>A MANE Select	ENSP00000262367.5:p.Tyr1539Asn
NM_001079846.1:c.4501T>A	NP_001073315.1:p.Tyr1501Asn
NM_004380.2:c.4615T>A	NP_004371.2:p.Tyr1539Asn
ENST00000262367.9:c.4615T>A	ENSP00000262367.5:p.Tyr1539Asn
ENST00000382070.7:c.4501T>A	ENSP00000371502.3:p.Tyr1501Asn
ENST00000570939.2:c.3250T>A	ENSP00000461002.2:p.Tyr1084Asn
ENST00000571763.5:n.405T>A
ENST00000576720.1:n.3438T>A
XM_005255124.3:c.4570T>A	XP_005255181.1:p.Tyr1524Asn
XM_005255124.4:c.4570T>A	XP_005255181.1:p.Tyr1524Asn
XM_005255125.3:c.4198T>A	XP_005255182.1:p.Tyr1400Asn
XM_005255125.4:c.4198T>A	XP_005255182.1:p.Tyr1400Asn
XM_006720848.2:c.4354T>A	XP_006720911.1:p.Tyr1452Asn
XM_006720848.3:c.4354T>A	XP_006720911.1:p.Tyr1452Asn
XM_011522380.1:c.4561T>A	XP_011520682.1:p.Tyr1521Asn
XM_011522381.1:c.3862T>A	XP_011520683.1:p.Tyr1288Asn
XM_011522381.2:c.3862T>A	XP_011520683.1:p.Tyr1288Asn
XM_017022944.1:c.4609T>A	XP_016878433.1:p.Tyr1537Asn