Canonical Allele Identifier: CA394565288

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151340181
• MyVariant Identifiers: chr16:g.3790442C>A (hg19) ; chr16:g.3740441C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740441C>A , CM000678.2:g.3740441C>A	GRCh38
NC_000016.9:g.3790442C>A , CM000678.1:g.3790442C>A	GRCh37
NC_000016.8:g.3730443C>A	NCBI36
NG_009873.1:g.144680G>T
NG_009873.2:g.145273G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4091G>T MANE Select	ENSP00000262367.5:p.Ser1364Ile
ENST00000262367.9:c.4091G>T	ENSP00000262367.5:p.Ser1364Ile
ENST00000382070.7:c.3977G>T	ENSP00000371502.3:p.Ser1326Ile
ENST00000570939.2:c.2726G>T	ENSP00000461002.2:p.Ser909Ile
ENST00000573517.6:c.397G>T
ENST00000574740.1:n.173G>T
ENST00000576720.1:n.3028G>T
NM_001079846.1:c.3977G>T	NP_001073315.1:p.Ser1326Ile
NM_004380.2:c.4091G>T	NP_004371.2:p.Ser1364Ile
XM_005255124.3:c.4046G>T	XP_005255181.1:p.Ser1349Ile
XM_005255125.3:c.3674G>T	XP_005255182.1:p.Ser1225Ile
XM_006720848.2:c.4091G>T	XP_006720911.1:p.Ser1364Ile
XM_011522380.1:c.4037G>T	XP_011520682.1:p.Ser1346Ile
XM_011522381.1:c.3338G>T	XP_011520683.1:p.Ser1113Ile
XM_005255124.4:c.4046G>T	XP_005255181.1:p.Ser1349Ile
XM_005255125.4:c.3674G>T	XP_005255182.1:p.Ser1225Ile
XM_006720848.3:c.4091G>T	XP_006720911.1:p.Ser1364Ile
XM_011522381.2:c.3338G>T	XP_011520683.1:p.Ser1113Ile
XM_017022944.1:c.4085G>T	XP_016878433.1:p.Ser1362Ile
NM_004380.3:c.4091G>T MANE Select	NP_004371.2:p.Ser1364Ile