Canonical Allele Identifier: CA2573151993

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3769366C>T , CM000678.2:g.3769366C>T	GRCh38
NC_000016.9:g.3819367C>T , CM000678.1:g.3819367C>T	GRCh37
NC_000016.8:g.3759368C>T	NCBI36
NG_009873.1:g.115755G>A
NG_009873.2:g.116348G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2881-13G>A MANE Select	NP_004371.2:n.2881-13G>A
ENST00000262367.10:c.2881-13G>A MANE Select	ENSP00000262367.5:n.2881-13G>A
NM_001079846.1:c.2767-13G>A	NP_001073315.1:n.2767-13G>A
NM_004380.2:c.2881-13G>A	NP_004371.2:n.2881-13G>A
ENST00000262367.9:c.2881-13G>A	ENSP00000262367.5:n.2881-13G>A
ENST00000382070.7:c.2767-13G>A	ENSP00000371502.3:n.2767-13G>A
ENST00000570939.2:c.1486-13G>A	ENSP00000461002.2:n.1486-13G>A
ENST00000573672.1:n.135-13G>A
XM_005255124.3:c.2836-13G>A	XP_005255181.1:n.2836-13G>A
XM_005255124.4:c.2836-13G>A	XP_005255181.1:n.2836-13G>A
XM_005255125.3:c.2464-13G>A	XP_005255182.1:n.2464-13G>A
XM_005255125.4:c.2464-13G>A	XP_005255182.1:n.2464-13G>A
XM_006720848.2:c.2881-13G>A	XP_006720911.1:n.2881-13G>A
XM_006720848.3:c.2881-13G>A	XP_006720911.1:n.2881-13G>A
XM_011522380.1:c.2827-13G>A	XP_011520682.1:n.2827-13G>A
XM_011522381.1:c.2128-13G>A	XP_011520683.1:n.2128-13G>A
XM_011522381.2:c.2128-13G>A	XP_011520683.1:n.2128-13G>A
XM_011522382.1:c.2881-13G>A	XP_011520684.1:n.2881-13G>A
XM_011522382.3:c.2881-13G>A	XP_011520684.1:n.2881-13G>A
XM_017022944.1:c.2875-13G>A	XP_016878433.1:n.2875-13G>A