Canonical Allele Identifier: CA394554427

Gene: CREBBP

Linked Data

• dbSNP Id: rs372852842
• gnomAD v4: 16-3728992-C-A
• COSMIC: COSM3509552
• MyVariant Identifiers: chr16:g.3778993C>A (hg19) ; chr16:g.3728992C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728992C>A , CM000678.2:g.3728992C>A	GRCh38
NC_000016.9:g.3778993C>A , CM000678.1:g.3778993C>A	GRCh37
NC_000016.8:g.3718994C>A	NCBI36
NG_009873.1:g.156129G>T
NG_009873.2:g.156722G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6055G>T MANE Select	ENSP00000262367.5:p.Gly2019Trp
ENST00000262367.9:c.6055G>T	ENSP00000262367.5:p.Gly2019Trp
ENST00000382070.7:c.5941G>T	ENSP00000371502.3:p.Gly1981Trp
NM_001079846.1:c.5941G>T	NP_001073315.1:p.Gly1981Trp
NM_004380.2:c.6055G>T	NP_004371.2:p.Gly2019Trp
XM_005255124.3:c.6010G>T	XP_005255181.1:p.Gly2004Trp
XM_005255125.3:c.5638G>T	XP_005255182.1:p.Gly1880Trp
XM_006720848.2:c.5794G>T	XP_006720911.1:p.Gly1932Trp
XM_011522380.1:c.6001G>T	XP_011520682.1:p.Gly2001Trp
XM_011522381.1:c.5302G>T	XP_011520683.1:p.Gly1768Trp
XM_005255124.4:c.6010G>T	XP_005255181.1:p.Gly2004Trp
XM_005255125.4:c.5638G>T	XP_005255182.1:p.Gly1880Trp
XM_006720848.3:c.5794G>T	XP_006720911.1:p.Gly1932Trp
XM_011522381.2:c.5302G>T	XP_011520683.1:p.Gly1768Trp
XM_017022944.1:c.6049G>T	XP_016878433.1:p.Gly2017Trp
NM_004380.3:c.6055G>T MANE Select	NP_004371.2:p.Gly2019Trp