Canonical Allele Identifier: CA7870046

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770749G>A , CM000678.2:g.3770749G>A	GRCh38
NC_000016.9:g.3820750G>A , CM000678.1:g.3820750G>A	GRCh37
NC_000016.8:g.3760751G>A	NCBI36
NG_009873.1:g.114372C>T
NG_009873.2:g.114965C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2701C>T MANE Select	NP_004371.2:p.Pro901Ser
ENST00000262367.10:c.2701C>T MANE Select	ENSP00000262367.5:p.Pro901Ser
NM_001079846.1:c.2587C>T	NP_001073315.1:p.Pro863Ser
NM_004380.2:c.2701C>T	NP_004371.2:p.Pro901Ser
ENST00000262367.9:c.2701C>T	ENSP00000262367.5:p.Pro901Ser
ENST00000382070.7:c.2587C>T	ENSP00000371502.3:p.Pro863Ser
ENST00000570939.2:c.1306C>T	ENSP00000461002.2:p.Pro436Ser
XM_005255124.3:c.2656C>T	XP_005255181.1:p.Pro886Ser
XM_005255124.4:c.2656C>T	XP_005255181.1:p.Pro886Ser
XM_005255125.3:c.2464-1396C>T	XP_005255182.1:n.2464-1396C>T
XM_005255125.4:c.2464-1396C>T	XP_005255182.1:n.2464-1396C>T
XM_006720848.2:c.2701C>T	XP_006720911.1:p.Pro901Ser
XM_006720848.3:c.2701C>T	XP_006720911.1:p.Pro901Ser
XM_011522380.1:c.2647C>T	XP_011520682.1:p.Pro883Ser
XM_011522381.1:c.1948C>T	XP_011520683.1:p.Pro650Ser
XM_011522381.2:c.1948C>T	XP_011520683.1:p.Pro650Ser
XM_011522382.1:c.2701C>T	XP_011520684.1:p.Pro901Ser
XM_011522382.3:c.2701C>T	XP_011520684.1:p.Pro901Ser
XM_017022944.1:c.2695C>T	XP_016878433.1:p.Pro899Ser