Canonical Allele Identifier: CA394556452

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779623T>G (hg19) ; chr16:g.3729622T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729622T>G , CM000678.2:g.3729622T>G	GRCh38
NC_000016.9:g.3779623T>G , CM000678.1:g.3779623T>G	GRCh37
NC_000016.8:g.3719624T>G	NCBI36
NG_009873.1:g.155499A>C
NG_009873.2:g.156092A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5425A>C MANE Select	ENSP00000262367.5:p.Lys1809Gln
ENST00000262367.9:c.5425A>C	ENSP00000262367.5:p.Lys1809Gln
ENST00000382070.7:c.5311A>C	ENSP00000371502.3:p.Lys1771Gln
NM_001079846.1:c.5311A>C	NP_001073315.1:p.Lys1771Gln
NM_004380.2:c.5425A>C	NP_004371.2:p.Lys1809Gln
XM_005255124.3:c.5380A>C	XP_005255181.1:p.Lys1794Gln
XM_005255125.3:c.5008A>C	XP_005255182.1:p.Lys1670Gln
XM_006720848.2:c.5164A>C	XP_006720911.1:p.Lys1722Gln
XM_011522380.1:c.5371A>C	XP_011520682.1:p.Lys1791Gln
XM_011522381.1:c.4672A>C	XP_011520683.1:p.Lys1558Gln
XM_005255124.4:c.5380A>C	XP_005255181.1:p.Lys1794Gln
XM_005255125.4:c.5008A>C	XP_005255182.1:p.Lys1670Gln
XM_006720848.3:c.5164A>C	XP_006720911.1:p.Lys1722Gln
XM_011522381.2:c.4672A>C	XP_011520683.1:p.Lys1558Gln
XM_017022944.1:c.5419A>C	XP_016878433.1:p.Lys1807Gln
NM_004380.3:c.5425A>C MANE Select	NP_004371.2:p.Lys1809Gln