Canonical Allele Identifier: CA493393508

Gene: CREBBP

Linked Data

• dbSNP Id: rs1483103863
• gnomAD v3: 16-3728057-G-T
• gnomAD v4: 16-3728057-G-T
• MyVariant Identifiers: chr16:g.3778058G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728057G>T , CM000678.2:g.3728057G>T	GRCh38
NC_000016.9:g.3778058G>T , CM000678.1:g.3778058G>T	GRCh37
NC_000016.8:g.3718059G>T	NCBI36
NG_009873.1:g.157064C>A
NG_009873.2:g.157657C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6990C>A MANE Select	ENSP00000262367.5:p.Leu2330=
ENST00000262367.9:c.6990C>A	ENSP00000262367.5:p.Leu2330=
ENST00000382070.7:c.6876C>A	ENSP00000371502.3:p.Leu2292=
NM_001079846.1:c.6876C>A	NP_001073315.1:p.Leu2292=
NM_004380.2:c.6990C>A	NP_004371.2:p.Leu2330=
XM_005255124.3:c.6945C>A	XP_005255181.1:p.Leu2315=
XM_005255125.3:c.6573C>A	XP_005255182.1:p.Leu2191=
XM_006720848.2:c.6729C>A	XP_006720911.1:p.Leu2243=
XM_011522380.1:c.6936C>A	XP_011520682.1:p.Leu2312=
XM_011522381.1:c.6237C>A	XP_011520683.1:p.Leu2079=
XM_005255124.4:c.6945C>A	XP_005255181.1:p.Leu2315=
XM_005255125.4:c.6573C>A	XP_005255182.1:p.Leu2191=
XM_006720848.3:c.6729C>A	XP_006720911.1:p.Leu2243=
XM_011522381.2:c.6237C>A	XP_011520683.1:p.Leu2079=
XM_017022944.1:c.6984C>A	XP_016878433.1:p.Leu2328=
NM_004380.3:c.6990C>A MANE Select	NP_004371.2:p.Leu2330=