Canonical Allele Identifier: CA394553905

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305534
• MyVariant Identifiers: chr16:g.3778846G>A (hg19) ; chr16:g.3728845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728845G>A , CM000678.2:g.3728845G>A	GRCh38
NC_000016.9:g.3778846G>A , CM000678.1:g.3778846G>A	GRCh37
NC_000016.8:g.3718847G>A	NCBI36
NG_009873.1:g.156276C>T
NG_009873.2:g.156869C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6202C>T MANE Select	ENSP00000262367.5:p.Gln2068Ter
ENST00000262367.9:c.6202C>T	ENSP00000262367.5:p.Gln2068Ter
ENST00000382070.7:c.6088C>T	ENSP00000371502.3:p.Gln2030Ter
NM_001079846.1:c.6088C>T	NP_001073315.1:p.Gln2030Ter
NM_004380.2:c.6202C>T	NP_004371.2:p.Gln2068Ter
XM_005255124.3:c.6157C>T	XP_005255181.1:p.Gln2053Ter
XM_005255125.3:c.5785C>T	XP_005255182.1:p.Gln1929Ter
XM_006720848.2:c.5941C>T	XP_006720911.1:p.Gln1981Ter
XM_011522380.1:c.6148C>T	XP_011520682.1:p.Gln2050Ter
XM_011522381.1:c.5449C>T	XP_011520683.1:p.Gln1817Ter
XM_005255124.4:c.6157C>T	XP_005255181.1:p.Gln2053Ter
XM_005255125.4:c.5785C>T	XP_005255182.1:p.Gln1929Ter
XM_006720848.3:c.5941C>T	XP_006720911.1:p.Gln1981Ter
XM_011522381.2:c.5449C>T	XP_011520683.1:p.Gln1817Ter
XM_017022944.1:c.6196C>T	XP_016878433.1:p.Gln2066Ter
NM_004380.3:c.6202C>T MANE Select	NP_004371.2:p.Gln2068Ter