Canonical Allele Identifier: CA16620193

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 423615
• ClinVar RCV Id: RCV000480206
• dbSNP Id: rs1064796531
• MyVariant Identifiers: chr16:g.3778060G>A (hg19) ; chr16:g.3728059G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728059G>A , CM000678.2:g.3728059G>A	GRCh38
NC_000016.9:g.3778060G>A , CM000678.1:g.3778060G>A	GRCh37
NC_000016.8:g.3718061G>A	NCBI36
NG_009873.1:g.157062C>T
NG_009873.2:g.157655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6988C>T MANE Select	ENSP00000262367.5:p.Leu2330Phe
ENST00000262367.9:c.6988C>T	ENSP00000262367.5:p.Leu2330Phe
ENST00000382070.7:c.6874C>T	ENSP00000371502.3:p.Leu2292Phe
NM_001079846.1:c.6874C>T	NP_001073315.1:p.Leu2292Phe
NM_004380.2:c.6988C>T	NP_004371.2:p.Leu2330Phe
XM_005255124.3:c.6943C>T	XP_005255181.1:p.Leu2315Phe
XM_005255125.3:c.6571C>T	XP_005255182.1:p.Leu2191Phe
XM_006720848.2:c.6727C>T	XP_006720911.1:p.Leu2243Phe
XM_011522380.1:c.6934C>T	XP_011520682.1:p.Leu2312Phe
XM_011522381.1:c.6235C>T	XP_011520683.1:p.Leu2079Phe
XM_005255124.4:c.6943C>T	XP_005255181.1:p.Leu2315Phe
XM_005255125.4:c.6571C>T	XP_005255182.1:p.Leu2191Phe
XM_006720848.3:c.6727C>T	XP_006720911.1:p.Leu2243Phe
XM_011522381.2:c.6235C>T	XP_011520683.1:p.Leu2079Phe
XM_017022944.1:c.6982C>T	XP_016878433.1:p.Leu2328Phe
NM_004380.3:c.6988C>T MANE Select	NP_004371.2:p.Leu2330Phe