Canonical Allele Identifier: CA394554046

Gene: CREBBP

Linked Data

• dbSNP Id: rs748936007
• MyVariant Identifiers: chr16:g.3778893C>G (hg19) ; chr16:g.3728892C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728892C>G , CM000678.2:g.3728892C>G	GRCh38
NC_000016.9:g.3778893C>G , CM000678.1:g.3778893C>G	GRCh37
NC_000016.8:g.3718894C>G	NCBI36
NG_009873.1:g.156229G>C
NG_009873.2:g.156822G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6155G>C MANE Select	ENSP00000262367.5:p.Arg2052Pro
ENST00000262367.9:c.6155G>C	ENSP00000262367.5:p.Arg2052Pro
ENST00000382070.7:c.6041G>C	ENSP00000371502.3:p.Arg2014Pro
NM_001079846.1:c.6041G>C	NP_001073315.1:p.Arg2014Pro
NM_004380.2:c.6155G>C	NP_004371.2:p.Arg2052Pro
XM_005255124.3:c.6110G>C	XP_005255181.1:p.Arg2037Pro
XM_005255125.3:c.5738G>C	XP_005255182.1:p.Arg1913Pro
XM_006720848.2:c.5894G>C	XP_006720911.1:p.Arg1965Pro
XM_011522380.1:c.6101G>C	XP_011520682.1:p.Arg2034Pro
XM_011522381.1:c.5402G>C	XP_011520683.1:p.Arg1801Pro
XM_005255124.4:c.6110G>C	XP_005255181.1:p.Arg2037Pro
XM_005255125.4:c.5738G>C	XP_005255182.1:p.Arg1913Pro
XM_006720848.3:c.5894G>C	XP_006720911.1:p.Arg1965Pro
XM_011522381.2:c.5402G>C	XP_011520683.1:p.Arg1801Pro
XM_017022944.1:c.6149G>C	XP_016878433.1:p.Arg2050Pro
NM_004380.3:c.6155G>C MANE Select	NP_004371.2:p.Arg2052Pro