Canonical Allele Identifier: CA493279335

Gene: CREBBP

Linked Data

• dbSNP Id: rs1596805723
• MyVariant Identifiers: chr16:g.3786723T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736722T>A , CM000678.2:g.3736722T>A	GRCh38
NC_000016.9:g.3786723T>A , CM000678.1:g.3786723T>A	GRCh37
NC_000016.8:g.3726724T>A	NCBI36
NG_009873.1:g.148399A>T
NG_009873.2:g.148992A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4488A>T MANE Select	ENSP00000262367.5:p.Pro1496=
ENST00000262367.9:c.4488A>T	ENSP00000262367.5:p.Pro1496=
ENST00000382070.7:c.4374A>T	ENSP00000371502.3:p.Pro1458=
ENST00000570939.2:c.3123A>T	ENSP00000461002.2:p.Pro1041=
ENST00000571763.5:n.278A>T
ENST00000574740.1:n.309A>T
ENST00000576720.1:n.3311A>T
NM_001079846.1:c.4374A>T	NP_001073315.1:p.Pro1458=
NM_004380.2:c.4488A>T	NP_004371.2:p.Pro1496=
XM_005255124.3:c.4443A>T	XP_005255181.1:p.Pro1481=
XM_005255125.3:c.4071A>T	XP_005255182.1:p.Pro1357=
XM_006720848.2:c.4227A>T	XP_006720911.1:p.Pro1409=
XM_011522380.1:c.4434A>T	XP_011520682.1:p.Pro1478=
XM_011522381.1:c.3735A>T	XP_011520683.1:p.Pro1245=
XM_005255124.4:c.4443A>T	XP_005255181.1:p.Pro1481=
XM_005255125.4:c.4071A>T	XP_005255182.1:p.Pro1357=
XM_006720848.3:c.4227A>T	XP_006720911.1:p.Pro1409=
XM_011522381.2:c.3735A>T	XP_011520683.1:p.Pro1245=
XM_017022944.1:c.4482A>T	XP_016878433.1:p.Pro1494=
NM_004380.3:c.4488A>T MANE Select	NP_004371.2:p.Pro1496=