Canonical Allele Identifier: CA493393462

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299747
• MyVariant Identifiers: chr16:g.3778019C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728018C>A , CM000678.2:g.3728018C>A	GRCh38
NC_000016.9:g.3778019C>A , CM000678.1:g.3778019C>A	GRCh37
NC_000016.8:g.3718020C>A	NCBI36
NG_009873.1:g.157103G>T
NG_009873.2:g.157696G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7029G>T MANE Select	ENSP00000262367.5:p.Val2343=
ENST00000262367.9:c.7029G>T	ENSP00000262367.5:p.Val2343=
ENST00000382070.7:c.6915G>T	ENSP00000371502.3:p.Val2305=
NM_001079846.1:c.6915G>T	NP_001073315.1:p.Val2305=
NM_004380.2:c.7029G>T	NP_004371.2:p.Val2343=
XM_005255124.3:c.6984G>T	XP_005255181.1:p.Val2328=
XM_005255125.3:c.6612G>T	XP_005255182.1:p.Val2204=
XM_006720848.2:c.6768G>T	XP_006720911.1:p.Val2256=
XM_011522380.1:c.6975G>T	XP_011520682.1:p.Val2325=
XM_011522381.1:c.6276G>T	XP_011520683.1:p.Val2092=
XM_005255124.4:c.6984G>T	XP_005255181.1:p.Val2328=
XM_005255125.4:c.6612G>T	XP_005255182.1:p.Val2204=
XM_006720848.3:c.6768G>T	XP_006720911.1:p.Val2256=
XM_011522381.2:c.6276G>T	XP_011520683.1:p.Val2092=
XM_017022944.1:c.7023G>T	XP_016878433.1:p.Val2341=
NM_004380.3:c.7029G>T MANE Select	NP_004371.2:p.Val2343=