Canonical Allele Identifier: CA394556321

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310645
• MyVariant Identifiers: chr16:g.3779593A>T (hg19) ; chr16:g.3729592A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729592A>T , CM000678.2:g.3729592A>T	GRCh38
NC_000016.9:g.3779593A>T , CM000678.1:g.3779593A>T	GRCh37
NC_000016.8:g.3719594A>T	NCBI36
NG_009873.1:g.155529T>A
NG_009873.2:g.156122T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5455T>A MANE Select	ENSP00000262367.5:p.Cys1819Ser
ENST00000262367.9:c.5455T>A	ENSP00000262367.5:p.Cys1819Ser
ENST00000382070.7:c.5341T>A	ENSP00000371502.3:p.Cys1781Ser
NM_001079846.1:c.5341T>A	NP_001073315.1:p.Cys1781Ser
NM_004380.2:c.5455T>A	NP_004371.2:p.Cys1819Ser
XM_005255124.3:c.5410T>A	XP_005255181.1:p.Cys1804Ser
XM_005255125.3:c.5038T>A	XP_005255182.1:p.Cys1680Ser
XM_006720848.2:c.5194T>A	XP_006720911.1:p.Cys1732Ser
XM_011522380.1:c.5401T>A	XP_011520682.1:p.Cys1801Ser
XM_011522381.1:c.4702T>A	XP_011520683.1:p.Cys1568Ser
XM_005255124.4:c.5410T>A	XP_005255181.1:p.Cys1804Ser
XM_005255125.4:c.5038T>A	XP_005255182.1:p.Cys1680Ser
XM_006720848.3:c.5194T>A	XP_006720911.1:p.Cys1732Ser
XM_011522381.2:c.4702T>A	XP_011520683.1:p.Cys1568Ser
XM_017022944.1:c.5449T>A	XP_016878433.1:p.Cys1817Ser
NM_004380.3:c.5455T>A MANE Select	NP_004371.2:p.Cys1819Ser