Canonical Allele Identifier: CA394554169

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1716042
• ClinVar RCV Id: RCV002303184
• MyVariant Identifiers: chr16:g.3778924T>A (hg19) ; chr16:g.3728923T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728923T>A , CM000678.2:g.3728923T>A	GRCh38
NC_000016.9:g.3778924T>A , CM000678.1:g.3778924T>A	GRCh37
NC_000016.8:g.3718925T>A	NCBI36
NG_009873.1:g.156198A>T
NG_009873.2:g.156791A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6124A>T MANE Select	ENSP00000262367.5:p.Met2042Leu
ENST00000262367.9:c.6124A>T	ENSP00000262367.5:p.Met2042Leu
ENST00000382070.7:c.6010A>T	ENSP00000371502.3:p.Met2004Leu
NM_001079846.1:c.6010A>T	NP_001073315.1:p.Met2004Leu
NM_004380.2:c.6124A>T	NP_004371.2:p.Met2042Leu
XM_005255124.3:c.6079A>T	XP_005255181.1:p.Met2027Leu
XM_005255125.3:c.5707A>T	XP_005255182.1:p.Met1903Leu
XM_006720848.2:c.5863A>T	XP_006720911.1:p.Met1955Leu
XM_011522380.1:c.6070A>T	XP_011520682.1:p.Met2024Leu
XM_011522381.1:c.5371A>T	XP_011520683.1:p.Met1791Leu
XM_005255124.4:c.6079A>T	XP_005255181.1:p.Met2027Leu
XM_005255125.4:c.5707A>T	XP_005255182.1:p.Met1903Leu
XM_006720848.3:c.5863A>T	XP_006720911.1:p.Met1955Leu
XM_011522381.2:c.5371A>T	XP_011520683.1:p.Met1791Leu
XM_017022944.1:c.6118A>T	XP_016878433.1:p.Met2040Leu
NM_004380.3:c.6124A>T MANE Select	NP_004371.2:p.Met2042Leu