Canonical Allele Identifier: CA394566726

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3745284G>A , CM000678.2:g.3745284G>A	GRCh38
NC_000016.9:g.3795285G>A , CM000678.1:g.3795285G>A	GRCh37
NC_000016.8:g.3735286G>A	NCBI36
NG_009873.1:g.139837C>T
NG_009873.2:g.140430C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3907C>T MANE Select	NP_004371.2:p.Pro1303Ser
ENST00000262367.10:c.3907C>T MANE Select	ENSP00000262367.5:p.Pro1303Ser
NM_001079846.1:c.3793C>T	NP_001073315.1:p.Pro1265Ser
NM_004380.2:c.3907C>T	NP_004371.2:p.Pro1303Ser
ENST00000262367.9:c.3907C>T	ENSP00000262367.5:p.Pro1303Ser
ENST00000382070.7:c.3793C>T	ENSP00000371502.3:p.Pro1265Ser
ENST00000570939.2:c.2542C>T	ENSP00000461002.2:p.Pro848Ser
ENST00000572569.1:n.371C>T
ENST00000573517.6:c.213C>T
XM_005255124.3:c.3862C>T	XP_005255181.1:p.Pro1288Ser
XM_005255124.4:c.3862C>T	XP_005255181.1:p.Pro1288Ser
XM_005255125.3:c.3490C>T	XP_005255182.1:p.Pro1164Ser
XM_005255125.4:c.3490C>T	XP_005255182.1:p.Pro1164Ser
XM_006720848.2:c.3907C>T	XP_006720911.1:p.Pro1303Ser
XM_006720848.3:c.3907C>T	XP_006720911.1:p.Pro1303Ser
XM_011522380.1:c.3853C>T	XP_011520682.1:p.Pro1285Ser
XM_011522381.1:c.3154C>T	XP_011520683.1:p.Pro1052Ser
XM_011522381.2:c.3154C>T	XP_011520683.1:p.Pro1052Ser
XM_017022944.1:c.3901C>T	XP_016878433.1:p.Pro1301Ser