Canonical Allele Identifier: CA394554790

Gene: CREBBP

Linked Data

• dbSNP Id: rs1555471216
• gnomAD v3: 16-3729078-G-C
• gnomAD v4: 16-3729078-G-C
• MyVariant Identifiers: chr16:g.3779079G>C (hg19) ; chr16:g.3729078G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729078G>C , CM000678.2:g.3729078G>C	GRCh38
NC_000016.9:g.3779079G>C , CM000678.1:g.3779079G>C	GRCh37
NC_000016.8:g.3719080G>C	NCBI36
NG_009873.1:g.156043C>G
NG_009873.2:g.156636C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5969C>G MANE Select	ENSP00000262367.5:p.Thr1990Ser
ENST00000262367.9:c.5969C>G	ENSP00000262367.5:p.Thr1990Ser
ENST00000382070.7:c.5855C>G	ENSP00000371502.3:p.Thr1952Ser
NM_001079846.1:c.5855C>G	NP_001073315.1:p.Thr1952Ser
NM_004380.2:c.5969C>G	NP_004371.2:p.Thr1990Ser
XM_005255124.3:c.5924C>G	XP_005255181.1:p.Thr1975Ser
XM_005255125.3:c.5552C>G	XP_005255182.1:p.Thr1851Ser
XM_006720848.2:c.5708C>G	XP_006720911.1:p.Thr1903Ser
XM_011522380.1:c.5915C>G	XP_011520682.1:p.Thr1972Ser
XM_011522381.1:c.5216C>G	XP_011520683.1:p.Thr1739Ser
XM_005255124.4:c.5924C>G	XP_005255181.1:p.Thr1975Ser
XM_005255125.4:c.5552C>G	XP_005255182.1:p.Thr1851Ser
XM_006720848.3:c.5708C>G	XP_006720911.1:p.Thr1903Ser
XM_011522381.2:c.5216C>G	XP_011520683.1:p.Thr1739Ser
XM_017022944.1:c.5963C>G	XP_016878433.1:p.Thr1988Ser
NM_004380.3:c.5969C>G MANE Select	NP_004371.2:p.Thr1990Ser