Canonical Allele Identifier: CA394550340

Gene: CREBBP

Linked Data

• dbSNP Id: rs1384538394
• COSMIC: COSM970534
• MyVariant Identifiers: chr16:g.3777856C>A (hg19) ; chr16:g.3727855C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727855C>A , CM000678.2:g.3727855C>A	GRCh38
NC_000016.9:g.3777856C>A , CM000678.1:g.3777856C>A	GRCh37
NC_000016.8:g.3717857C>A	NCBI36
NG_009873.1:g.157266G>T
NG_009873.2:g.157859G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7192G>T MANE Select	ENSP00000262367.5:p.Gly2398Ter
ENST00000262367.9:c.7192G>T	ENSP00000262367.5:p.Gly2398Ter
ENST00000382070.7:c.7078G>T	ENSP00000371502.3:p.Gly2360Ter
NM_001079846.1:c.7078G>T	NP_001073315.1:p.Gly2360Ter
NM_004380.2:c.7192G>T	NP_004371.2:p.Gly2398Ter
XM_005255124.3:c.7147G>T	XP_005255181.1:p.Gly2383Ter
XM_005255125.3:c.6775G>T	XP_005255182.1:p.Gly2259Ter
XM_006720848.2:c.6931G>T	XP_006720911.1:p.Gly2311Ter
XM_011522380.1:c.7138G>T	XP_011520682.1:p.Gly2380Ter
XM_011522381.1:c.6439G>T	XP_011520683.1:p.Gly2147Ter
XM_005255124.4:c.7147G>T	XP_005255181.1:p.Gly2383Ter
XM_005255125.4:c.6775G>T	XP_005255182.1:p.Gly2259Ter
XM_006720848.3:c.6931G>T	XP_006720911.1:p.Gly2311Ter
XM_011522381.2:c.6439G>T	XP_011520683.1:p.Gly2147Ter
XM_017022944.1:c.7186G>T	XP_016878433.1:p.Gly2396Ter
NM_004380.3:c.7192G>T MANE Select	NP_004371.2:p.Gly2398Ter