Canonical Allele Identifier: CA394565300

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3790448A>C (hg19) ; chr16:g.3740447A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740447A>C , CM000678.2:g.3740447A>C	GRCh38
NC_000016.9:g.3790448A>C , CM000678.1:g.3790448A>C	GRCh37
NC_000016.8:g.3730449A>C	NCBI36
NG_009873.1:g.144674T>G
NG_009873.2:g.145267T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4085T>G MANE Select	ENSP00000262367.5:p.Val1362Gly
ENST00000262367.9:c.4085T>G	ENSP00000262367.5:p.Val1362Gly
ENST00000382070.7:c.3971T>G	ENSP00000371502.3:p.Val1324Gly
ENST00000570939.2:c.2720T>G	ENSP00000461002.2:p.Val907Gly
ENST00000572569.1:n.549T>G
ENST00000573517.6:c.391T>G
ENST00000574740.1:n.167T>G
ENST00000576720.1:n.3022T>G
NM_001079846.1:c.3971T>G	NP_001073315.1:p.Val1324Gly
NM_004380.2:c.4085T>G	NP_004371.2:p.Val1362Gly
XM_005255124.3:c.4040T>G	XP_005255181.1:p.Val1347Gly
XM_005255125.3:c.3668T>G	XP_005255182.1:p.Val1223Gly
XM_006720848.2:c.4085T>G	XP_006720911.1:p.Val1362Gly
XM_011522380.1:c.4031T>G	XP_011520682.1:p.Val1344Gly
XM_011522381.1:c.3332T>G	XP_011520683.1:p.Val1111Gly
XM_005255124.4:c.4040T>G	XP_005255181.1:p.Val1347Gly
XM_005255125.4:c.3668T>G	XP_005255182.1:p.Val1223Gly
XM_006720848.3:c.4085T>G	XP_006720911.1:p.Val1362Gly
XM_011522381.2:c.3332T>G	XP_011520683.1:p.Val1111Gly
XM_017022944.1:c.4079T>G	XP_016878433.1:p.Val1360Gly
NM_004380.3:c.4085T>G MANE Select	NP_004371.2:p.Val1362Gly