Canonical Allele Identifier: CA493280341

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151340210
• MyVariant Identifiers: chr16:g.3790447C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740446C>A , CM000678.2:g.3740446C>A	GRCh38
NC_000016.9:g.3790447C>A , CM000678.1:g.3790447C>A	GRCh37
NC_000016.8:g.3730448C>A	NCBI36
NG_009873.1:g.144675G>T
NG_009873.2:g.145268G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4086G>T MANE Select	ENSP00000262367.5:p.Val1362=
ENST00000262367.9:c.4086G>T	ENSP00000262367.5:p.Val1362=
ENST00000382070.7:c.3972G>T	ENSP00000371502.3:p.Val1324=
ENST00000570939.2:c.2721G>T	ENSP00000461002.2:p.Val907=
ENST00000572569.1:n.550G>T
ENST00000573517.6:c.392G>T
ENST00000574740.1:n.168G>T
ENST00000576720.1:n.3023G>T
NM_001079846.1:c.3972G>T	NP_001073315.1:p.Val1324=
NM_004380.2:c.4086G>T	NP_004371.2:p.Val1362=
XM_005255124.3:c.4041G>T	XP_005255181.1:p.Val1347=
XM_005255125.3:c.3669G>T	XP_005255182.1:p.Val1223=
XM_006720848.2:c.4086G>T	XP_006720911.1:p.Val1362=
XM_011522380.1:c.4032G>T	XP_011520682.1:p.Val1344=
XM_011522381.1:c.3333G>T	XP_011520683.1:p.Val1111=
XM_005255124.4:c.4041G>T	XP_005255181.1:p.Val1347=
XM_005255125.4:c.3669G>T	XP_005255182.1:p.Val1223=
XM_006720848.3:c.4086G>T	XP_006720911.1:p.Val1362=
XM_011522381.2:c.3333G>T	XP_011520683.1:p.Val1111=
XM_017022944.1:c.4080G>T	XP_016878433.1:p.Val1360=
NM_004380.3:c.4086G>T MANE Select	NP_004371.2:p.Val1362=