Canonical Allele Identifier: CA394550907

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299963
• gnomAD v4: 16-3728053-C-T
• MyVariant Identifiers: chr16:g.3778054C>T (hg19) ; chr16:g.3728053C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728053C>T , CM000678.2:g.3728053C>T	GRCh38
NC_000016.9:g.3778054C>T , CM000678.1:g.3778054C>T	GRCh37
NC_000016.8:g.3718055C>T	NCBI36
NG_009873.1:g.157068G>A
NG_009873.2:g.157661G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6994G>A MANE Select	ENSP00000262367.5:p.Gly2332Ser
ENST00000262367.9:c.6994G>A	ENSP00000262367.5:p.Gly2332Ser
ENST00000382070.7:c.6880G>A	ENSP00000371502.3:p.Gly2294Ser
NM_001079846.1:c.6880G>A	NP_001073315.1:p.Gly2294Ser
NM_004380.2:c.6994G>A	NP_004371.2:p.Gly2332Ser
XM_005255124.3:c.6949G>A	XP_005255181.1:p.Gly2317Ser
XM_005255125.3:c.6577G>A	XP_005255182.1:p.Gly2193Ser
XM_006720848.2:c.6733G>A	XP_006720911.1:p.Gly2245Ser
XM_011522380.1:c.6940G>A	XP_011520682.1:p.Gly2314Ser
XM_011522381.1:c.6241G>A	XP_011520683.1:p.Gly2081Ser
XM_005255124.4:c.6949G>A	XP_005255181.1:p.Gly2317Ser
XM_005255125.4:c.6577G>A	XP_005255182.1:p.Gly2193Ser
XM_006720848.3:c.6733G>A	XP_006720911.1:p.Gly2245Ser
XM_011522381.2:c.6241G>A	XP_011520683.1:p.Gly2081Ser
XM_017022944.1:c.6988G>A	XP_016878433.1:p.Gly2330Ser
NM_004380.3:c.6994G>A MANE Select	NP_004371.2:p.Gly2332Ser