Canonical Allele Identifier: CA394558449

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731304G>A , CM000678.2:g.3731304G>A	GRCh38
NC_000016.9:g.3781305G>A , CM000678.1:g.3781305G>A	GRCh37
NC_000016.8:g.3721306G>A	NCBI36
NG_009873.1:g.153817C>T
NG_009873.2:g.154410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5060C>T MANE Select	ENSP00000262367.5:p.Ser1687Phe
ENST00000262367.9:c.5060C>T	ENSP00000262367.5:p.Ser1687Phe
ENST00000382070.7:c.4946C>T	ENSP00000371502.3:p.Ser1649Phe
NM_001079846.1:c.4946C>T	NP_001073315.1:p.Ser1649Phe
NM_004380.2:c.5060C>T	NP_004371.2:p.Ser1687Phe
XM_005255124.3:c.5015C>T	XP_005255181.1:p.Ser1672Phe
XM_005255125.3:c.4643C>T	XP_005255182.1:p.Ser1548Phe
XM_006720848.2:c.4799C>T	XP_006720911.1:p.Ser1600Phe
XM_011522380.1:c.5006C>T	XP_011520682.1:p.Ser1669Phe
XM_011522381.1:c.4307C>T	XP_011520683.1:p.Ser1436Phe
XM_005255124.4:c.5015C>T	XP_005255181.1:p.Ser1672Phe
XM_005255125.4:c.4643C>T	XP_005255182.1:p.Ser1548Phe
XM_006720848.3:c.4799C>T	XP_006720911.1:p.Ser1600Phe
XM_011522381.2:c.4307C>T	XP_011520683.1:p.Ser1436Phe
XM_017022944.1:c.5054C>T	XP_016878433.1:p.Ser1685Phe
NM_004380.3:c.5060C>T MANE Select	NP_004371.2:p.Ser1687Phe