Canonical Allele Identifier: CA394550502

Gene: CREBBP

Linked Data

• dbSNP Id: rs1048314482
• MyVariant Identifiers: chr16:g.3777933G>C (hg19) ; chr16:g.3727932G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727932G>C , CM000678.2:g.3727932G>C	GRCh38
NC_000016.9:g.3777933G>C , CM000678.1:g.3777933G>C	GRCh37
NC_000016.8:g.3717934G>C	NCBI36
NG_009873.1:g.157189C>G
NG_009873.2:g.157782C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7115C>G MANE Select	ENSP00000262367.5:p.Ser2372Trp
ENST00000262367.9:c.7115C>G	ENSP00000262367.5:p.Ser2372Trp
ENST00000382070.7:c.7001C>G	ENSP00000371502.3:p.Ser2334Trp
NM_001079846.1:c.7001C>G	NP_001073315.1:p.Ser2334Trp
NM_004380.2:c.7115C>G	NP_004371.2:p.Ser2372Trp
XM_005255124.3:c.7070C>G	XP_005255181.1:p.Ser2357Trp
XM_005255125.3:c.6698C>G	XP_005255182.1:p.Ser2233Trp
XM_006720848.2:c.6854C>G	XP_006720911.1:p.Ser2285Trp
XM_011522380.1:c.7061C>G	XP_011520682.1:p.Ser2354Trp
XM_011522381.1:c.6362C>G	XP_011520683.1:p.Ser2121Trp
XM_005255124.4:c.7070C>G	XP_005255181.1:p.Ser2357Trp
XM_005255125.4:c.6698C>G	XP_005255182.1:p.Ser2233Trp
XM_006720848.3:c.6854C>G	XP_006720911.1:p.Ser2285Trp
XM_011522381.2:c.6362C>G	XP_011520683.1:p.Ser2121Trp
XM_017022944.1:c.7109C>G	XP_016878433.1:p.Ser2370Trp
NM_004380.3:c.7115C>G MANE Select	NP_004371.2:p.Ser2372Trp