Canonical Allele Identifier: CA394550997

Gene: CREBBP

Linked Data

• dbSNP Id: rs996280072
• COSMIC: COSM4674640
• MyVariant Identifiers: chr16:g.3778076C>A (hg19) ; chr16:g.3728075C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728075C>A , CM000678.2:g.3728075C>A	GRCh38
NC_000016.9:g.3778076C>A , CM000678.1:g.3778076C>A	GRCh37
NC_000016.8:g.3718077C>A	NCBI36
NG_009873.1:g.157046G>T
NG_009873.2:g.157639G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6972G>T MANE Select	ENSP00000262367.5:p.Gln2324His
ENST00000262367.9:c.6972G>T	ENSP00000262367.5:p.Gln2324His
ENST00000382070.7:c.6858G>T	ENSP00000371502.3:p.Gln2286His
NM_001079846.1:c.6858G>T	NP_001073315.1:p.Gln2286His
NM_004380.2:c.6972G>T	NP_004371.2:p.Gln2324His
XM_005255124.3:c.6927G>T	XP_005255181.1:p.Gln2309His
XM_005255125.3:c.6555G>T	XP_005255182.1:p.Gln2185His
XM_006720848.2:c.6711G>T	XP_006720911.1:p.Gln2237His
XM_011522380.1:c.6918G>T	XP_011520682.1:p.Gln2306His
XM_011522381.1:c.6219G>T	XP_011520683.1:p.Gln2073His
XM_005255124.4:c.6927G>T	XP_005255181.1:p.Gln2309His
XM_005255125.4:c.6555G>T	XP_005255182.1:p.Gln2185His
XM_006720848.3:c.6711G>T	XP_006720911.1:p.Gln2237His
XM_011522381.2:c.6219G>T	XP_011520683.1:p.Gln2073His
XM_017022944.1:c.6966G>T	XP_016878433.1:p.Gln2322His
NM_004380.3:c.6972G>T MANE Select	NP_004371.2:p.Gln2324His