Canonical Allele Identifier: CA493279519

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786768A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736767A>G , CM000678.2:g.3736767A>G	GRCh38
NC_000016.9:g.3786768A>G , CM000678.1:g.3786768A>G	GRCh37
NC_000016.8:g.3726769A>G	NCBI36
NG_009873.1:g.148354T>C
NG_009873.2:g.148947T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4443T>C MANE Select	ENSP00000262367.5:p.Asp1481=
ENST00000262367.9:c.4443T>C	ENSP00000262367.5:p.Asp1481=
ENST00000382070.7:c.4329T>C	ENSP00000371502.3:p.Asp1443=
ENST00000570939.2:c.3078T>C	ENSP00000461002.2:p.Asp1026=
ENST00000571763.5:n.233T>C
ENST00000574740.1:n.264T>C
ENST00000576720.1:n.3266T>C
NM_001079846.1:c.4329T>C	NP_001073315.1:p.Asp1443=
NM_004380.2:c.4443T>C	NP_004371.2:p.Asp1481=
XM_005255124.3:c.4398T>C	XP_005255181.1:p.Asp1466=
XM_005255125.3:c.4026T>C	XP_005255182.1:p.Asp1342=
XM_006720848.2:c.4182T>C	XP_006720911.1:p.Asp1394=
XM_011522380.1:c.4389T>C	XP_011520682.1:p.Asp1463=
XM_011522381.1:c.3690T>C	XP_011520683.1:p.Asp1230=
XM_005255124.4:c.4398T>C	XP_005255181.1:p.Asp1466=
XM_005255125.4:c.4026T>C	XP_005255182.1:p.Asp1342=
XM_006720848.3:c.4182T>C	XP_006720911.1:p.Asp1394=
XM_011522381.2:c.3690T>C	XP_011520683.1:p.Asp1230=
XM_017022944.1:c.4437T>C	XP_016878433.1:p.Asp1479=
NM_004380.3:c.4443T>C MANE Select	NP_004371.2:p.Asp1481=