Canonical Allele Identifier: CA394556829

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3781234G>C , CM000678.2:g.3781234G>C	GRCh38
NC_000016.9:g.3831235G>C , CM000678.1:g.3831235G>C	GRCh37
NC_000016.8:g.3771236G>C	NCBI36
NG_009873.1:g.103887C>G
NG_009873.2:g.104480C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.1646C>G MANE Select	NP_004371.2:p.Ser549Ter
ENST00000262367.10:c.1646C>G MANE Select	ENSP00000262367.5:p.Ser549Ter
NM_001079846.1:c.1532C>G	NP_001073315.1:p.Ser511Ter
NM_004380.2:c.1646C>G	NP_004371.2:p.Ser549Ter
ENST00000262367.9:c.1646C>G	ENSP00000262367.5:p.Ser549Ter
ENST00000382070.7:c.1532C>G	ENSP00000371502.3:p.Ser511Ter
ENST00000570939.2:c.251C>G	ENSP00000461002.2:p.Ser84Ter
XM_005255124.3:c.1646C>G	XP_005255181.1:p.Ser549Ter
XM_005255124.4:c.1646C>G	XP_005255181.1:p.Ser549Ter
XM_005255125.3:c.1646C>G	XP_005255182.1:p.Ser549Ter
XM_005255125.4:c.1646C>G	XP_005255182.1:p.Ser549Ter
XM_006720848.2:c.1646C>G	XP_006720911.1:p.Ser549Ter
XM_006720848.3:c.1646C>G	XP_006720911.1:p.Ser549Ter
XM_011522380.1:c.1592C>G	XP_011520682.1:p.Ser531Ter
XM_011522381.1:c.893C>G	XP_011520683.1:p.Ser298Ter
XM_011522381.2:c.893C>G	XP_011520683.1:p.Ser298Ter
XM_011522382.1:c.1646C>G	XP_011520684.1:p.Ser549Ter
XM_011522382.3:c.1646C>G	XP_011520684.1:p.Ser549Ter
XM_017022944.1:c.1646C>G	XP_016878433.1:p.Ser549Ter