Canonical Allele Identifier: CA394554874

Gene: CREBBP

Linked Data

• dbSNP Id: rs1326637502
• gnomAD v2: 16-3779101-G-A
• MyVariant Identifiers: chr16:g.3779101G>A (hg19) ; chr16:g.3729100G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729100G>A , CM000678.2:g.3729100G>A	GRCh38
NC_000016.9:g.3779101G>A , CM000678.1:g.3779101G>A	GRCh37
NC_000016.8:g.3719102G>A	NCBI36
NG_009873.1:g.156021C>T
NG_009873.2:g.156614C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5947C>T MANE Select	ENSP00000262367.5:p.Pro1983Ser
ENST00000262367.9:c.5947C>T	ENSP00000262367.5:p.Pro1983Ser
ENST00000382070.7:c.5833C>T	ENSP00000371502.3:p.Pro1945Ser
NM_001079846.1:c.5833C>T	NP_001073315.1:p.Pro1945Ser
NM_004380.2:c.5947C>T	NP_004371.2:p.Pro1983Ser
XM_005255124.3:c.5902C>T	XP_005255181.1:p.Pro1968Ser
XM_005255125.3:c.5530C>T	XP_005255182.1:p.Pro1844Ser
XM_006720848.2:c.5686C>T	XP_006720911.1:p.Pro1896Ser
XM_011522380.1:c.5893C>T	XP_011520682.1:p.Pro1965Ser
XM_011522381.1:c.5194C>T	XP_011520683.1:p.Pro1732Ser
XM_005255124.4:c.5902C>T	XP_005255181.1:p.Pro1968Ser
XM_005255125.4:c.5530C>T	XP_005255182.1:p.Pro1844Ser
XM_006720848.3:c.5686C>T	XP_006720911.1:p.Pro1896Ser
XM_011522381.2:c.5194C>T	XP_011520683.1:p.Pro1732Ser
XM_017022944.1:c.5941C>T	XP_016878433.1:p.Pro1981Ser
NM_004380.3:c.5947C>T MANE Select	NP_004371.2:p.Pro1983Ser