Canonical Allele Identifier: CA394553977

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778877C>A (hg19) ; chr16:g.3728876C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728876C>A , CM000678.2:g.3728876C>A	GRCh38
NC_000016.9:g.3778877C>A , CM000678.1:g.3778877C>A	GRCh37
NC_000016.8:g.3718878C>A	NCBI36
NG_009873.1:g.156245G>T
NG_009873.2:g.156838G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6171G>T MANE Select	ENSP00000262367.5:p.Gln2057His
ENST00000262367.9:c.6171G>T	ENSP00000262367.5:p.Gln2057His
ENST00000382070.7:c.6057G>T	ENSP00000371502.3:p.Gln2019His
NM_001079846.1:c.6057G>T	NP_001073315.1:p.Gln2019His
NM_004380.2:c.6171G>T	NP_004371.2:p.Gln2057His
XM_005255124.3:c.6126G>T	XP_005255181.1:p.Gln2042His
XM_005255125.3:c.5754G>T	XP_005255182.1:p.Gln1918His
XM_006720848.2:c.5910G>T	XP_006720911.1:p.Gln1970His
XM_011522380.1:c.6117G>T	XP_011520682.1:p.Gln2039His
XM_011522381.1:c.5418G>T	XP_011520683.1:p.Gln1806His
XM_005255124.4:c.6126G>T	XP_005255181.1:p.Gln2042His
XM_005255125.4:c.5754G>T	XP_005255182.1:p.Gln1918His
XM_006720848.3:c.5910G>T	XP_006720911.1:p.Gln1970His
XM_011522381.2:c.5418G>T	XP_011520683.1:p.Gln1806His
XM_017022944.1:c.6165G>T	XP_016878433.1:p.Gln2055His
NM_004380.3:c.6171G>T MANE Select	NP_004371.2:p.Gln2057His