Canonical Allele Identifier: CA394550901

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299952
• MyVariant Identifiers: chr16:g.3778053C>T (hg19) ; chr16:g.3728052C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728052C>T , CM000678.2:g.3728052C>T	GRCh38
NC_000016.9:g.3778053C>T , CM000678.1:g.3778053C>T	GRCh37
NC_000016.8:g.3718054C>T	NCBI36
NG_009873.1:g.157069G>A
NG_009873.2:g.157662G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6995G>A MANE Select	ENSP00000262367.5:p.Gly2332Asp
ENST00000262367.9:c.6995G>A	ENSP00000262367.5:p.Gly2332Asp
ENST00000382070.7:c.6881G>A	ENSP00000371502.3:p.Gly2294Asp
NM_001079846.1:c.6881G>A	NP_001073315.1:p.Gly2294Asp
NM_004380.2:c.6995G>A	NP_004371.2:p.Gly2332Asp
XM_005255124.3:c.6950G>A	XP_005255181.1:p.Gly2317Asp
XM_005255125.3:c.6578G>A	XP_005255182.1:p.Gly2193Asp
XM_006720848.2:c.6734G>A	XP_006720911.1:p.Gly2245Asp
XM_011522380.1:c.6941G>A	XP_011520682.1:p.Gly2314Asp
XM_011522381.1:c.6242G>A	XP_011520683.1:p.Gly2081Asp
XM_005255124.4:c.6950G>A	XP_005255181.1:p.Gly2317Asp
XM_005255125.4:c.6578G>A	XP_005255182.1:p.Gly2193Asp
XM_006720848.3:c.6734G>A	XP_006720911.1:p.Gly2245Asp
XM_011522381.2:c.6242G>A	XP_011520683.1:p.Gly2081Asp
XM_017022944.1:c.6989G>A	XP_016878433.1:p.Gly2330Asp
NM_004380.3:c.6995G>A MANE Select	NP_004371.2:p.Gly2332Asp