Canonical Allele Identifier: CA493279254

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052070322
• MyVariant Identifiers: chr16:g.3786699T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736698T>C , CM000678.2:g.3736698T>C	GRCh38
NC_000016.9:g.3786699T>C , CM000678.1:g.3786699T>C	GRCh37
NC_000016.8:g.3726700T>C	NCBI36
NG_009873.1:g.148423A>G
NG_009873.2:g.149016A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4512A>G MANE Select	ENSP00000262367.5:p.Lys1504=
ENST00000262367.9:c.4512A>G	ENSP00000262367.5:p.Lys1504=
ENST00000382070.7:c.4398A>G	ENSP00000371502.3:p.Lys1466=
ENST00000570939.2:c.3147A>G	ENSP00000461002.2:p.Lys1049=
ENST00000571763.5:n.302A>G
ENST00000574740.1:n.333A>G
ENST00000576720.1:n.3335A>G
NM_001079846.1:c.4398A>G	NP_001073315.1:p.Lys1466=
NM_004380.2:c.4512A>G	NP_004371.2:p.Lys1504=
XM_005255124.3:c.4467A>G	XP_005255181.1:p.Lys1489=
XM_005255125.3:c.4095A>G	XP_005255182.1:p.Lys1365=
XM_006720848.2:c.4251A>G	XP_006720911.1:p.Lys1417=
XM_011522380.1:c.4458A>G	XP_011520682.1:p.Lys1486=
XM_011522381.1:c.3759A>G	XP_011520683.1:p.Lys1253=
XM_005255124.4:c.4467A>G	XP_005255181.1:p.Lys1489=
XM_005255125.4:c.4095A>G	XP_005255182.1:p.Lys1365=
XM_006720848.3:c.4251A>G	XP_006720911.1:p.Lys1417=
XM_011522381.2:c.3759A>G	XP_011520683.1:p.Lys1253=
XM_017022944.1:c.4506A>G	XP_016878433.1:p.Lys1502=
NM_004380.3:c.4512A>G MANE Select	NP_004371.2:p.Lys1504=