Canonical Allele Identifier: CA394566456

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3794895T>C (hg19) ; chr16:g.3744894T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3744894T>C , CM000678.2:g.3744894T>C	GRCh38
NC_000016.9:g.3794895T>C , CM000678.1:g.3794895T>C	GRCh37
NC_000016.8:g.3734896T>C	NCBI36
NG_009873.1:g.140227A>G
NG_009873.2:g.140820A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3982A>G MANE Select	ENSP00000262367.5:p.Arg1328Gly
ENST00000635919.1:n.30A>G
ENST00000262367.9:c.3982A>G	ENSP00000262367.5:p.Arg1328Gly
ENST00000382070.7:c.3868A>G	ENSP00000371502.3:p.Arg1290Gly
ENST00000570939.2:c.2617A>G	ENSP00000461002.2:p.Arg873Gly
ENST00000572569.1:n.446A>G
ENST00000573517.6:c.288A>G
ENST00000574740.1:n.64A>G
NM_001079846.1:c.3868A>G	NP_001073315.1:p.Arg1290Gly
NM_004380.2:c.3982A>G	NP_004371.2:p.Arg1328Gly
XM_005255124.3:c.3937A>G	XP_005255181.1:p.Arg1313Gly
XM_005255125.3:c.3565A>G	XP_005255182.1:p.Arg1189Gly
XM_006720848.2:c.3982A>G	XP_006720911.1:p.Arg1328Gly
XM_011522380.1:c.3928A>G	XP_011520682.1:p.Arg1310Gly
XM_011522381.1:c.3229A>G	XP_011520683.1:p.Arg1077Gly
XM_005255124.4:c.3937A>G	XP_005255181.1:p.Arg1313Gly
XM_005255125.4:c.3565A>G	XP_005255182.1:p.Arg1189Gly
XM_006720848.3:c.3982A>G	XP_006720911.1:p.Arg1328Gly
XM_011522381.2:c.3229A>G	XP_011520683.1:p.Arg1077Gly
XM_017022944.1:c.3976A>G	XP_016878433.1:p.Arg1326Gly
NM_004380.3:c.3982A>G MANE Select	NP_004371.2:p.Arg1328Gly