Canonical Allele Identifier: CA7869624

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740459A>G , CM000678.2:g.3740459A>G	GRCh38
NC_000016.9:g.3790460A>G , CM000678.1:g.3790460A>G	GRCh37
NC_000016.8:g.3730461A>G	NCBI36
NG_009873.1:g.144662T>C
NG_009873.2:g.145255T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4073T>C MANE Select	NP_004371.2:p.Phe1358Ser
ENST00000262367.10:c.4073T>C MANE Select	ENSP00000262367.5:p.Phe1358Ser
NM_001079846.1:c.3959T>C	NP_001073315.1:p.Phe1320Ser
NM_004380.2:c.4073T>C	NP_004371.2:p.Phe1358Ser
ENST00000262367.9:c.4073T>C	ENSP00000262367.5:p.Phe1358Ser
ENST00000382070.7:c.3959T>C	ENSP00000371502.3:p.Phe1320Ser
ENST00000570939.2:c.2708T>C	ENSP00000461002.2:p.Phe903Ser
ENST00000572569.1:n.537T>C
ENST00000573517.6:c.379T>C
ENST00000574740.1:n.155T>C
ENST00000576720.1:n.3010T>C
XM_005255124.3:c.4028T>C	XP_005255181.1:p.Phe1343Ser
XM_005255124.4:c.4028T>C	XP_005255181.1:p.Phe1343Ser
XM_005255125.3:c.3656T>C	XP_005255182.1:p.Phe1219Ser
XM_005255125.4:c.3656T>C	XP_005255182.1:p.Phe1219Ser
XM_006720848.2:c.4073T>C	XP_006720911.1:p.Phe1358Ser
XM_006720848.3:c.4073T>C	XP_006720911.1:p.Phe1358Ser
XM_011522380.1:c.4019T>C	XP_011520682.1:p.Phe1340Ser
XM_011522381.1:c.3320T>C	XP_011520683.1:p.Phe1107Ser
XM_011522381.2:c.3320T>C	XP_011520683.1:p.Phe1107Ser
XM_017022944.1:c.4067T>C	XP_016878433.1:p.Phe1356Ser