Canonical Allele Identifier: CA394563511

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329378
• MyVariant Identifiers: chr16:g.3786697T>C (hg19) ; chr16:g.3736696T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736696T>C , CM000678.2:g.3736696T>C	GRCh38
NC_000016.9:g.3786697T>C , CM000678.1:g.3786697T>C	GRCh37
NC_000016.8:g.3726698T>C	NCBI36
NG_009873.1:g.148425A>G
NG_009873.2:g.149018A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4514A>G MANE Select	ENSP00000262367.5:p.Lys1505Arg
ENST00000262367.9:c.4514A>G	ENSP00000262367.5:p.Lys1505Arg
ENST00000382070.7:c.4400A>G	ENSP00000371502.3:p.Lys1467Arg
ENST00000570939.2:c.3149A>G	ENSP00000461002.2:p.Lys1050Arg
ENST00000571763.5:n.304A>G
ENST00000574740.1:n.335A>G
ENST00000576720.1:n.3337A>G
NM_001079846.1:c.4400A>G	NP_001073315.1:p.Lys1467Arg
NM_004380.2:c.4514A>G	NP_004371.2:p.Lys1505Arg
XM_005255124.3:c.4469A>G	XP_005255181.1:p.Lys1490Arg
XM_005255125.3:c.4097A>G	XP_005255182.1:p.Lys1366Arg
XM_006720848.2:c.4253A>G	XP_006720911.1:p.Lys1418Arg
XM_011522380.1:c.4460A>G	XP_011520682.1:p.Lys1487Arg
XM_011522381.1:c.3761A>G	XP_011520683.1:p.Lys1254Arg
XM_005255124.4:c.4469A>G	XP_005255181.1:p.Lys1490Arg
XM_005255125.4:c.4097A>G	XP_005255182.1:p.Lys1366Arg
XM_006720848.3:c.4253A>G	XP_006720911.1:p.Lys1418Arg
XM_011522381.2:c.3761A>G	XP_011520683.1:p.Lys1254Arg
XM_017022944.1:c.4508A>G	XP_016878433.1:p.Lys1503Arg
NM_004380.3:c.4514A>G MANE Select	NP_004371.2:p.Lys1505Arg