Canonical Allele Identifier: CA493393022

Gene: CREBBP

Linked Data

• dbSNP Id: rs1299421124
• gnomAD v2: 16-3778127-G-A
• gnomAD v4: 16-3728126-G-A
• MyVariant Identifiers: chr16:g.3778127G>A (hg19) ; chr16:g.3728126G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728126G>A , CM000678.2:g.3728126G>A	GRCh38
NC_000016.9:g.3778127G>A , CM000678.1:g.3778127G>A	GRCh37
NC_000016.8:g.3718128G>A	NCBI36
NG_009873.1:g.156995C>T
NG_009873.2:g.157588C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6921C>T MANE Select	ENSP00000262367.5:p.Ser2307=
ENST00000262367.9:c.6921C>T	ENSP00000262367.5:p.Ser2307=
ENST00000382070.7:c.6807C>T	ENSP00000371502.3:p.Ser2269=
NM_001079846.1:c.6807C>T	NP_001073315.1:p.Ser2269=
NM_004380.2:c.6921C>T	NP_004371.2:p.Ser2307=
XM_005255124.3:c.6876C>T	XP_005255181.1:p.Ser2292=
XM_005255125.3:c.6504C>T	XP_005255182.1:p.Ser2168=
XM_006720848.2:c.6660C>T	XP_006720911.1:p.Ser2220=
XM_011522380.1:c.6867C>T	XP_011520682.1:p.Ser2289=
XM_011522381.1:c.6168C>T	XP_011520683.1:p.Ser2056=
XM_005255124.4:c.6876C>T	XP_005255181.1:p.Ser2292=
XM_005255125.4:c.6504C>T	XP_005255182.1:p.Ser2168=
XM_006720848.3:c.6660C>T	XP_006720911.1:p.Ser2220=
XM_011522381.2:c.6168C>T	XP_011520683.1:p.Ser2056=
XM_017022944.1:c.6915C>T	XP_016878433.1:p.Ser2305=
NM_004380.3:c.6921C>T MANE Select	NP_004371.2:p.Ser2307=