Canonical Allele Identifier: CA394553952

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305682
• gnomAD v4: 16-3728867-C-G
• MyVariant Identifiers: chr16:g.3778868C>G (hg19) ; chr16:g.3728867C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728867C>G , CM000678.2:g.3728867C>G	GRCh38
NC_000016.9:g.3778868C>G , CM000678.1:g.3778868C>G	GRCh37
NC_000016.8:g.3718869C>G	NCBI36
NG_009873.1:g.156254G>C
NG_009873.2:g.156847G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6180G>C MANE Select	ENSP00000262367.5:p.Arg2060Ser
ENST00000262367.9:c.6180G>C	ENSP00000262367.5:p.Arg2060Ser
ENST00000382070.7:c.6066G>C	ENSP00000371502.3:p.Arg2022Ser
NM_001079846.1:c.6066G>C	NP_001073315.1:p.Arg2022Ser
NM_004380.2:c.6180G>C	NP_004371.2:p.Arg2060Ser
XM_005255124.3:c.6135G>C	XP_005255181.1:p.Arg2045Ser
XM_005255125.3:c.5763G>C	XP_005255182.1:p.Arg1921Ser
XM_006720848.2:c.5919G>C	XP_006720911.1:p.Arg1973Ser
XM_011522380.1:c.6126G>C	XP_011520682.1:p.Arg2042Ser
XM_011522381.1:c.5427G>C	XP_011520683.1:p.Arg1809Ser
XM_005255124.4:c.6135G>C	XP_005255181.1:p.Arg2045Ser
XM_005255125.4:c.5763G>C	XP_005255182.1:p.Arg1921Ser
XM_006720848.3:c.5919G>C	XP_006720911.1:p.Arg1973Ser
XM_011522381.2:c.5427G>C	XP_011520683.1:p.Arg1809Ser
XM_017022944.1:c.6174G>C	XP_016878433.1:p.Arg2058Ser
NM_004380.3:c.6180G>C MANE Select	NP_004371.2:p.Arg2060Ser