Canonical Allele Identifier: CA394565305

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052175855
• gnomAD v3: 16-3740448-C-T
• gnomAD v4: 16-3740448-C-T
• MyVariant Identifiers: chr16:g.3790449C>T (hg19) ; chr16:g.3740448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740448C>T , CM000678.2:g.3740448C>T	GRCh38
NC_000016.9:g.3790449C>T , CM000678.1:g.3790449C>T	GRCh37
NC_000016.8:g.3730450C>T	NCBI36
NG_009873.1:g.144673G>A
NG_009873.2:g.145266G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4084G>A MANE Select	ENSP00000262367.5:p.Val1362Met
ENST00000262367.9:c.4084G>A	ENSP00000262367.5:p.Val1362Met
ENST00000382070.7:c.3970G>A	ENSP00000371502.3:p.Val1324Met
ENST00000570939.2:c.2719G>A	ENSP00000461002.2:p.Val907Met
ENST00000572569.1:n.548G>A
ENST00000573517.6:c.390G>A
ENST00000574740.1:n.166G>A
ENST00000576720.1:n.3021G>A
NM_001079846.1:c.3970G>A	NP_001073315.1:p.Val1324Met
NM_004380.2:c.4084G>A	NP_004371.2:p.Val1362Met
XM_005255124.3:c.4039G>A	XP_005255181.1:p.Val1347Met
XM_005255125.3:c.3667G>A	XP_005255182.1:p.Val1223Met
XM_006720848.2:c.4084G>A	XP_006720911.1:p.Val1362Met
XM_011522380.1:c.4030G>A	XP_011520682.1:p.Val1344Met
XM_011522381.1:c.3331G>A	XP_011520683.1:p.Val1111Met
XM_005255124.4:c.4039G>A	XP_005255181.1:p.Val1347Met
XM_005255125.4:c.3667G>A	XP_005255182.1:p.Val1223Met
XM_006720848.3:c.4084G>A	XP_006720911.1:p.Val1362Met
XM_011522381.2:c.3331G>A	XP_011520683.1:p.Val1111Met
XM_017022944.1:c.4078G>A	XP_016878433.1:p.Val1360Met
NM_004380.3:c.4084G>A MANE Select	NP_004371.2:p.Val1362Met