Canonical Allele Identifier: CA394556284

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310609
• MyVariant Identifiers: chr16:g.3779587G>A (hg19) ; chr16:g.3729586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729586G>A , CM000678.2:g.3729586G>A	GRCh38
NC_000016.9:g.3779587G>A , CM000678.1:g.3779587G>A	GRCh37
NC_000016.8:g.3719588G>A	NCBI36
NG_009873.1:g.155535C>T
NG_009873.2:g.156128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5461C>T MANE Select	ENSP00000262367.5:p.Gln1821Ter
ENST00000262367.9:c.5461C>T	ENSP00000262367.5:p.Gln1821Ter
ENST00000382070.7:c.5347C>T	ENSP00000371502.3:p.Gln1783Ter
NM_001079846.1:c.5347C>T	NP_001073315.1:p.Gln1783Ter
NM_004380.2:c.5461C>T	NP_004371.2:p.Gln1821Ter
XM_005255124.3:c.5416C>T	XP_005255181.1:p.Gln1806Ter
XM_005255125.3:c.5044C>T	XP_005255182.1:p.Gln1682Ter
XM_006720848.2:c.5200C>T	XP_006720911.1:p.Gln1734Ter
XM_011522380.1:c.5407C>T	XP_011520682.1:p.Gln1803Ter
XM_011522381.1:c.4708C>T	XP_011520683.1:p.Gln1570Ter
XM_005255124.4:c.5416C>T	XP_005255181.1:p.Gln1806Ter
XM_005255125.4:c.5044C>T	XP_005255182.1:p.Gln1682Ter
XM_006720848.3:c.5200C>T	XP_006720911.1:p.Gln1734Ter
XM_011522381.2:c.4708C>T	XP_011520683.1:p.Gln1570Ter
XM_017022944.1:c.5455C>T	XP_016878433.1:p.Gln1819Ter
NM_004380.3:c.5461C>T MANE Select	NP_004371.2:p.Gln1821Ter