Canonical Allele Identifier: CA394550824

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778035G>T (hg19) ; chr16:g.3728034G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728034G>T , CM000678.2:g.3728034G>T	GRCh38
NC_000016.9:g.3778035G>T , CM000678.1:g.3778035G>T	GRCh37
NC_000016.8:g.3718036G>T	NCBI36
NG_009873.1:g.157087C>A
NG_009873.2:g.157680C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7013C>A MANE Select	ENSP00000262367.5:p.Ser2338Tyr
ENST00000262367.9:c.7013C>A	ENSP00000262367.5:p.Ser2338Tyr
ENST00000382070.7:c.6899C>A	ENSP00000371502.3:p.Ser2300Tyr
NM_001079846.1:c.6899C>A	NP_001073315.1:p.Ser2300Tyr
NM_004380.2:c.7013C>A	NP_004371.2:p.Ser2338Tyr
XM_005255124.3:c.6968C>A	XP_005255181.1:p.Ser2323Tyr
XM_005255125.3:c.6596C>A	XP_005255182.1:p.Ser2199Tyr
XM_006720848.2:c.6752C>A	XP_006720911.1:p.Ser2251Tyr
XM_011522380.1:c.6959C>A	XP_011520682.1:p.Ser2320Tyr
XM_011522381.1:c.6260C>A	XP_011520683.1:p.Ser2087Tyr
XM_005255124.4:c.6968C>A	XP_005255181.1:p.Ser2323Tyr
XM_005255125.4:c.6596C>A	XP_005255182.1:p.Ser2199Tyr
XM_006720848.3:c.6752C>A	XP_006720911.1:p.Ser2251Tyr
XM_011522381.2:c.6260C>A	XP_011520683.1:p.Ser2087Tyr
XM_017022944.1:c.7007C>A	XP_016878433.1:p.Ser2336Tyr
NM_004380.3:c.7013C>A MANE Select	NP_004371.2:p.Ser2338Tyr