Canonical Allele Identifier: CA394553873

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305440
• MyVariant Identifiers: chr16:g.3778830G>C (hg19) ; chr16:g.3728829G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728829G>C , CM000678.2:g.3728829G>C	GRCh38
NC_000016.9:g.3778830G>C , CM000678.1:g.3778830G>C	GRCh37
NC_000016.8:g.3718831G>C	NCBI36
NG_009873.1:g.156292C>G
NG_009873.2:g.156885C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6218C>G MANE Select	ENSP00000262367.5:p.Thr2073Ser
ENST00000262367.9:c.6218C>G	ENSP00000262367.5:p.Thr2073Ser
ENST00000382070.7:c.6104C>G	ENSP00000371502.3:p.Thr2035Ser
NM_001079846.1:c.6104C>G	NP_001073315.1:p.Thr2035Ser
NM_004380.2:c.6218C>G	NP_004371.2:p.Thr2073Ser
XM_005255124.3:c.6173C>G	XP_005255181.1:p.Thr2058Ser
XM_005255125.3:c.5801C>G	XP_005255182.1:p.Thr1934Ser
XM_006720848.2:c.5957C>G	XP_006720911.1:p.Thr1986Ser
XM_011522380.1:c.6164C>G	XP_011520682.1:p.Thr2055Ser
XM_011522381.1:c.5465C>G	XP_011520683.1:p.Thr1822Ser
XM_005255124.4:c.6173C>G	XP_005255181.1:p.Thr2058Ser
XM_005255125.4:c.5801C>G	XP_005255182.1:p.Thr1934Ser
XM_006720848.3:c.5957C>G	XP_006720911.1:p.Thr1986Ser
XM_011522381.2:c.5465C>G	XP_011520683.1:p.Thr1822Ser
XM_017022944.1:c.6212C>G	XP_016878433.1:p.Thr2071Ser
NM_004380.3:c.6218C>G MANE Select	NP_004371.2:p.Thr2073Ser