Canonical Allele Identifier: CA394556098

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310133
• gnomAD v4: 16-3729517-G-C
• MyVariant Identifiers: chr16:g.3779518G>C (hg19) ; chr16:g.3729517G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729517G>C , CM000678.2:g.3729517G>C	GRCh38
NC_000016.9:g.3779518G>C , CM000678.1:g.3779518G>C	GRCh37
NC_000016.8:g.3719519G>C	NCBI36
NG_009873.1:g.155604C>G
NG_009873.2:g.156197C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5530C>G MANE Select	ENSP00000262367.5:p.Leu1844Val
ENST00000262367.9:c.5530C>G	ENSP00000262367.5:p.Leu1844Val
ENST00000382070.7:c.5416C>G	ENSP00000371502.3:p.Leu1806Val
NM_001079846.1:c.5416C>G	NP_001073315.1:p.Leu1806Val
NM_004380.2:c.5530C>G	NP_004371.2:p.Leu1844Val
XM_005255124.3:c.5485C>G	XP_005255181.1:p.Leu1829Val
XM_005255125.3:c.5113C>G	XP_005255182.1:p.Leu1705Val
XM_006720848.2:c.5269C>G	XP_006720911.1:p.Leu1757Val
XM_011522380.1:c.5476C>G	XP_011520682.1:p.Leu1826Val
XM_011522381.1:c.4777C>G	XP_011520683.1:p.Leu1593Val
XM_005255124.4:c.5485C>G	XP_005255181.1:p.Leu1829Val
XM_005255125.4:c.5113C>G	XP_005255182.1:p.Leu1705Val
XM_006720848.3:c.5269C>G	XP_006720911.1:p.Leu1757Val
XM_011522381.2:c.4777C>G	XP_011520683.1:p.Leu1593Val
XM_017022944.1:c.5524C>G	XP_016878433.1:p.Leu1842Val
NM_004380.3:c.5530C>G MANE Select	NP_004371.2:p.Leu1844Val