Canonical Allele Identifier: CA394563479

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329349
• gnomAD v4: 16-3736691-G-C
• MyVariant Identifiers: chr16:g.3786692G>C (hg19) ; chr16:g.3736691G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736691G>C , CM000678.2:g.3736691G>C	GRCh38
NC_000016.9:g.3786692G>C , CM000678.1:g.3786692G>C	GRCh37
NC_000016.8:g.3726693G>C	NCBI36
NG_009873.1:g.148430C>G
NG_009873.2:g.149023C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4519C>G MANE Select	ENSP00000262367.5:p.Leu1507Val
ENST00000262367.9:c.4519C>G	ENSP00000262367.5:p.Leu1507Val
ENST00000382070.7:c.4405C>G	ENSP00000371502.3:p.Leu1469Val
ENST00000570939.2:c.3154C>G	ENSP00000461002.2:p.Leu1052Val
ENST00000571763.5:n.309C>G
ENST00000574740.1:n.340C>G
ENST00000576720.1:n.3342C>G
NM_001079846.1:c.4405C>G	NP_001073315.1:p.Leu1469Val
NM_004380.2:c.4519C>G	NP_004371.2:p.Leu1507Val
XM_005255124.3:c.4474C>G	XP_005255181.1:p.Leu1492Val
XM_005255125.3:c.4102C>G	XP_005255182.1:p.Leu1368Val
XM_006720848.2:c.4258C>G	XP_006720911.1:p.Leu1420Val
XM_011522380.1:c.4465C>G	XP_011520682.1:p.Leu1489Val
XM_011522381.1:c.3766C>G	XP_011520683.1:p.Leu1256Val
XM_005255124.4:c.4474C>G	XP_005255181.1:p.Leu1492Val
XM_005255125.4:c.4102C>G	XP_005255182.1:p.Leu1368Val
XM_006720848.3:c.4258C>G	XP_006720911.1:p.Leu1420Val
XM_011522381.2:c.3766C>G	XP_011520683.1:p.Leu1256Val
XM_017022944.1:c.4513C>G	XP_016878433.1:p.Leu1505Val
NM_004380.3:c.4519C>G MANE Select	NP_004371.2:p.Leu1507Val