Canonical Allele Identifier: CA276972337

Gene: CREBBP

Linked Data

• dbSNP Id: rs1051436224
• MyVariant Identifiers: chr16:g.3779827T>C (hg19) ; chr16:g.3729826T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729826T>C , CM000678.2:g.3729826T>C	GRCh38
NC_000016.9:g.3779827T>C , CM000678.1:g.3779827T>C	GRCh37
NC_000016.8:g.3719828T>C	NCBI36
NG_009873.1:g.155295A>G
NG_009873.2:g.155888A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5221A>G MANE Select	ENSP00000262367.5:p.Lys1741Glu
ENST00000262367.9:c.5221A>G	ENSP00000262367.5:p.Lys1741Glu
ENST00000382070.7:c.5107A>G	ENSP00000371502.3:p.Lys1703Glu
NM_001079846.1:c.5107A>G	NP_001073315.1:p.Lys1703Glu
NM_004380.2:c.5221A>G	NP_004371.2:p.Lys1741Glu
XM_005255124.3:c.5176A>G	XP_005255181.1:p.Lys1726Glu
XM_005255125.3:c.4804A>G	XP_005255182.1:p.Lys1602Glu
XM_006720848.2:c.4960A>G	XP_006720911.1:p.Lys1654Glu
XM_011522380.1:c.5167A>G	XP_011520682.1:p.Lys1723Glu
XM_011522381.1:c.4468A>G	XP_011520683.1:p.Lys1490Glu
XM_005255124.4:c.5176A>G	XP_005255181.1:p.Lys1726Glu
XM_005255125.4:c.4804A>G	XP_005255182.1:p.Lys1602Glu
XM_006720848.3:c.4960A>G	XP_006720911.1:p.Lys1654Glu
XM_011522381.2:c.4468A>G	XP_011520683.1:p.Lys1490Glu
XM_017022944.1:c.5215A>G	XP_016878433.1:p.Lys1739Glu
NM_004380.3:c.5221A>G MANE Select	NP_004371.2:p.Lys1741Glu