Canonical Allele Identifier: CA493393668

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305113
• MyVariant Identifiers: chr16:g.3778790C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728789C>A , CM000678.2:g.3728789C>A	GRCh38
NC_000016.9:g.3778790C>A , CM000678.1:g.3778790C>A	GRCh37
NC_000016.8:g.3718791C>A	NCBI36
NG_009873.1:g.156332G>T
NG_009873.2:g.156925G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6258G>T MANE Select	ENSP00000262367.5:p.Val2086=
ENST00000262367.9:c.6258G>T	ENSP00000262367.5:p.Val2086=
ENST00000382070.7:c.6144G>T	ENSP00000371502.3:p.Val2048=
NM_001079846.1:c.6144G>T	NP_001073315.1:p.Val2048=
NM_004380.2:c.6258G>T	NP_004371.2:p.Val2086=
XM_005255124.3:c.6213G>T	XP_005255181.1:p.Val2071=
XM_005255125.3:c.5841G>T	XP_005255182.1:p.Val1947=
XM_006720848.2:c.5997G>T	XP_006720911.1:p.Val1999=
XM_011522380.1:c.6204G>T	XP_011520682.1:p.Val2068=
XM_011522381.1:c.5505G>T	XP_011520683.1:p.Val1835=
XM_005255124.4:c.6213G>T	XP_005255181.1:p.Val2071=
XM_005255125.4:c.5841G>T	XP_005255182.1:p.Val1947=
XM_006720848.3:c.5997G>T	XP_006720911.1:p.Val1999=
XM_011522381.2:c.5505G>T	XP_011520683.1:p.Val1835=
XM_017022944.1:c.6252G>T	XP_016878433.1:p.Val2084=
NM_004380.3:c.6258G>T MANE Select	NP_004371.2:p.Val2086=