Canonical Allele Identifier: CA394556996

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311227
• COSMIC: COSM3937063
• MyVariant Identifiers: chr16:g.3779662G>A (hg19) ; chr16:g.3729661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729661G>A , CM000678.2:g.3729661G>A	GRCh38
NC_000016.9:g.3779662G>A , CM000678.1:g.3779662G>A	GRCh37
NC_000016.8:g.3719663G>A	NCBI36
NG_009873.1:g.155460C>T
NG_009873.2:g.156053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5386C>T MANE Select	ENSP00000262367.5:p.Gln1796Ter
ENST00000262367.9:c.5386C>T	ENSP00000262367.5:p.Gln1796Ter
ENST00000382070.7:c.5272C>T	ENSP00000371502.3:p.Gln1758Ter
NM_001079846.1:c.5272C>T	NP_001073315.1:p.Gln1758Ter
NM_004380.2:c.5386C>T	NP_004371.2:p.Gln1796Ter
XM_005255124.3:c.5341C>T	XP_005255181.1:p.Gln1781Ter
XM_005255125.3:c.4969C>T	XP_005255182.1:p.Gln1657Ter
XM_006720848.2:c.5125C>T	XP_006720911.1:p.Gln1709Ter
XM_011522380.1:c.5332C>T	XP_011520682.1:p.Gln1778Ter
XM_011522381.1:c.4633C>T	XP_011520683.1:p.Gln1545Ter
XM_005255124.4:c.5341C>T	XP_005255181.1:p.Gln1781Ter
XM_005255125.4:c.4969C>T	XP_005255182.1:p.Gln1657Ter
XM_006720848.3:c.5125C>T	XP_006720911.1:p.Gln1709Ter
XM_011522381.2:c.4633C>T	XP_011520683.1:p.Gln1545Ter
XM_017022944.1:c.5380C>T	XP_016878433.1:p.Gln1794Ter
NM_004380.3:c.5386C>T MANE Select	NP_004371.2:p.Gln1796Ter