Canonical Allele Identifier: CA7869007

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728284G>A , CM000678.2:g.3728284G>A	GRCh38
NC_000016.9:g.3778285G>A , CM000678.1:g.3778285G>A	GRCh37
NC_000016.8:g.3718286G>A	NCBI36
NG_009873.1:g.156837C>T
NG_009873.2:g.157430C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6763C>T MANE Select	NP_004371.2:p.Pro2255Ser
ENST00000262367.10:c.6763C>T MANE Select	ENSP00000262367.5:p.Pro2255Ser
NM_001079846.1:c.6649C>T	NP_001073315.1:p.Pro2217Ser
NM_004380.2:c.6763C>T	NP_004371.2:p.Pro2255Ser
ENST00000262367.9:c.6763C>T	ENSP00000262367.5:p.Pro2255Ser
ENST00000382070.7:c.6649C>T	ENSP00000371502.3:p.Pro2217Ser
XM_005255124.3:c.6718C>T	XP_005255181.1:p.Pro2240Ser
XM_005255124.4:c.6718C>T	XP_005255181.1:p.Pro2240Ser
XM_005255125.3:c.6346C>T	XP_005255182.1:p.Pro2116Ser
XM_005255125.4:c.6346C>T	XP_005255182.1:p.Pro2116Ser
XM_006720848.2:c.6502C>T	XP_006720911.1:p.Pro2168Ser
XM_006720848.3:c.6502C>T	XP_006720911.1:p.Pro2168Ser
XM_011522380.1:c.6709C>T	XP_011520682.1:p.Pro2237Ser
XM_011522381.1:c.6010C>T	XP_011520683.1:p.Pro2004Ser
XM_011522381.2:c.6010C>T	XP_011520683.1:p.Pro2004Ser
XM_017022944.1:c.6757C>T	XP_016878433.1:p.Pro2253Ser