Canonical Allele Identifier: CA493393195

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3777821G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727820G>C , CM000678.2:g.3727820G>C	GRCh38
NC_000016.9:g.3777821G>C , CM000678.1:g.3777821G>C	GRCh37
NC_000016.8:g.3717822G>C	NCBI36
NG_009873.1:g.157301C>G
NG_009873.2:g.157894C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7227C>G MANE Select	ENSP00000262367.5:p.Leu2409=
ENST00000262367.9:c.7227C>G	ENSP00000262367.5:p.Leu2409=
ENST00000382070.7:c.7113C>G	ENSP00000371502.3:p.Leu2371=
NM_001079846.1:c.7113C>G	NP_001073315.1:p.Leu2371=
NM_004380.2:c.7227C>G	NP_004371.2:p.Leu2409=
XM_005255124.3:c.7182C>G	XP_005255181.1:p.Leu2394=
XM_005255125.3:c.6810C>G	XP_005255182.1:p.Leu2270=
XM_006720848.2:c.6966C>G	XP_006720911.1:p.Leu2322=
XM_011522380.1:c.7173C>G	XP_011520682.1:p.Leu2391=
XM_011522381.1:c.6474C>G	XP_011520683.1:p.Leu2158=
XM_005255124.4:c.7182C>G	XP_005255181.1:p.Leu2394=
XM_005255125.4:c.6810C>G	XP_005255182.1:p.Leu2270=
XM_006720848.3:c.6966C>G	XP_006720911.1:p.Leu2322=
XM_011522381.2:c.6474C>G	XP_011520683.1:p.Leu2158=
XM_017022944.1:c.7221C>G	XP_016878433.1:p.Leu2407=
NM_004380.3:c.7227C>G MANE Select	NP_004371.2:p.Leu2409=