Canonical Allele Identifier: CA493279645

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151330073
• MyVariant Identifiers: chr16:g.3786798G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736797G>A , CM000678.2:g.3736797G>A	GRCh38
NC_000016.9:g.3786798G>A , CM000678.1:g.3786798G>A	GRCh37
NC_000016.8:g.3726799G>A	NCBI36
NG_009873.1:g.148324C>T
NG_009873.2:g.148917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4413C>T MANE Select	ENSP00000262367.5:p.Ile1471=
ENST00000262367.9:c.4413C>T	ENSP00000262367.5:p.Ile1471=
ENST00000382070.7:c.4299C>T	ENSP00000371502.3:p.Ile1433=
ENST00000570939.2:c.3048C>T	ENSP00000461002.2:p.Ile1016=
ENST00000571763.5:n.203C>T
ENST00000574740.1:n.234C>T
ENST00000576720.1:n.3236C>T
NM_001079846.1:c.4299C>T	NP_001073315.1:p.Ile1433=
NM_004380.2:c.4413C>T	NP_004371.2:p.Ile1471=
XM_005255124.3:c.4368C>T	XP_005255181.1:p.Ile1456=
XM_005255125.3:c.3996C>T	XP_005255182.1:p.Ile1332=
XM_006720848.2:c.4152C>T	XP_006720911.1:p.Ile1384=
XM_011522380.1:c.4359C>T	XP_011520682.1:p.Ile1453=
XM_011522381.1:c.3660C>T	XP_011520683.1:p.Ile1220=
XM_005255124.4:c.4368C>T	XP_005255181.1:p.Ile1456=
XM_005255125.4:c.3996C>T	XP_005255182.1:p.Ile1332=
XM_006720848.3:c.4152C>T	XP_006720911.1:p.Ile1384=
XM_011522381.2:c.3660C>T	XP_011520683.1:p.Ile1220=
XM_017022944.1:c.4407C>T	XP_016878433.1:p.Ile1469=
NM_004380.3:c.4413C>T MANE Select	NP_004371.2:p.Ile1471=