Canonical Allele Identifier: CA394557074

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 3065156
• ClinVar RCV Id: RCV003990233
• MyVariant Identifiers: chr16:g.3779696C>A (hg19) ; chr16:g.3729695C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729695C>A , CM000678.2:g.3729695C>A	GRCh38
NC_000016.9:g.3779696C>A , CM000678.1:g.3779696C>A	GRCh37
NC_000016.8:g.3719697C>A	NCBI36
NG_009873.1:g.155426G>T
NG_009873.2:g.156019G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5352G>T MANE Select	ENSP00000262367.5:p.Gln1784His
ENST00000262367.9:c.5352G>T	ENSP00000262367.5:p.Gln1784His
ENST00000382070.7:c.5238G>T	ENSP00000371502.3:p.Gln1746His
NM_001079846.1:c.5238G>T	NP_001073315.1:p.Gln1746His
NM_004380.2:c.5352G>T	NP_004371.2:p.Gln1784His
XM_005255124.3:c.5307G>T	XP_005255181.1:p.Gln1769His
XM_005255125.3:c.4935G>T	XP_005255182.1:p.Gln1645His
XM_006720848.2:c.5091G>T	XP_006720911.1:p.Gln1697His
XM_011522380.1:c.5298G>T	XP_011520682.1:p.Gln1766His
XM_011522381.1:c.4599G>T	XP_011520683.1:p.Gln1533His
XM_005255124.4:c.5307G>T	XP_005255181.1:p.Gln1769His
XM_005255125.4:c.4935G>T	XP_005255182.1:p.Gln1645His
XM_006720848.3:c.5091G>T	XP_006720911.1:p.Gln1697His
XM_011522381.2:c.4599G>T	XP_011520683.1:p.Gln1533His
XM_017022944.1:c.5346G>T	XP_016878433.1:p.Gln1782His
NM_004380.3:c.5352G>T MANE Select	NP_004371.2:p.Gln1784His