Canonical Allele Identifier: CA7868967

Gene: CREBBP

Linked Data

• dbSNP Id: rs751640745
• ExAC: 16:3778043 G / C
• gnomAD v2: 16-3778043-G-C
• gnomAD v3: 16-3728042-G-C
• gnomAD v4: 16-3728042-G-C
• MyVariant Identifiers: chr16:g.3778043G>C (hg19) ; chr16:g.3728042G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728042G>C , CM000678.2:g.3728042G>C	GRCh38
NC_000016.9:g.3778043G>C , CM000678.1:g.3778043G>C	GRCh37
NC_000016.8:g.3718044G>C	NCBI36
NG_009873.1:g.157079C>G
NG_009873.2:g.157672C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7005C>G MANE Select	ENSP00000262367.5:p.Ile2335Met
ENST00000262367.9:c.7005C>G	ENSP00000262367.5:p.Ile2335Met
ENST00000382070.7:c.6891C>G	ENSP00000371502.3:p.Ile2297Met
NM_001079846.1:c.6891C>G	NP_001073315.1:p.Ile2297Met
NM_004380.2:c.7005C>G	NP_004371.2:p.Ile2335Met
XM_005255124.3:c.6960C>G	XP_005255181.1:p.Ile2320Met
XM_005255125.3:c.6588C>G	XP_005255182.1:p.Ile2196Met
XM_006720848.2:c.6744C>G	XP_006720911.1:p.Ile2248Met
XM_011522380.1:c.6951C>G	XP_011520682.1:p.Ile2317Met
XM_011522381.1:c.6252C>G	XP_011520683.1:p.Ile2084Met
XM_005255124.4:c.6960C>G	XP_005255181.1:p.Ile2320Met
XM_005255125.4:c.6588C>G	XP_005255182.1:p.Ile2196Met
XM_006720848.3:c.6744C>G	XP_006720911.1:p.Ile2248Met
XM_011522381.2:c.6252C>G	XP_011520683.1:p.Ile2084Met
XM_017022944.1:c.6999C>G	XP_016878433.1:p.Ile2333Met
NM_004380.3:c.7005C>G MANE Select	NP_004371.2:p.Ile2335Met