Canonical Allele Identifier: CA394550469

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299088
• COSMIC: COSM94089
• MyVariant Identifiers: chr16:g.3777918G>A (hg19) ; chr16:g.3727917G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727917G>A , CM000678.2:g.3727917G>A	GRCh38
NC_000016.9:g.3777918G>A , CM000678.1:g.3777918G>A	GRCh37
NC_000016.8:g.3717919G>A	NCBI36
NG_009873.1:g.157204C>T
NG_009873.2:g.157797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7130C>T MANE Select	ENSP00000262367.5:p.Ser2377Leu
ENST00000262367.9:c.7130C>T	ENSP00000262367.5:p.Ser2377Leu
ENST00000382070.7:c.7016C>T	ENSP00000371502.3:p.Ser2339Leu
NM_001079846.1:c.7016C>T	NP_001073315.1:p.Ser2339Leu
NM_004380.2:c.7130C>T	NP_004371.2:p.Ser2377Leu
XM_005255124.3:c.7085C>T	XP_005255181.1:p.Ser2362Leu
XM_005255125.3:c.6713C>T	XP_005255182.1:p.Ser2238Leu
XM_006720848.2:c.6869C>T	XP_006720911.1:p.Ser2290Leu
XM_011522380.1:c.7076C>T	XP_011520682.1:p.Ser2359Leu
XM_011522381.1:c.6377C>T	XP_011520683.1:p.Ser2126Leu
XM_005255124.4:c.7085C>T	XP_005255181.1:p.Ser2362Leu
XM_005255125.4:c.6713C>T	XP_005255182.1:p.Ser2238Leu
XM_006720848.3:c.6869C>T	XP_006720911.1:p.Ser2290Leu
XM_011522381.2:c.6377C>T	XP_011520683.1:p.Ser2126Leu
XM_017022944.1:c.7124C>T	XP_016878433.1:p.Ser2375Leu
NM_004380.3:c.7130C>T MANE Select	NP_004371.2:p.Ser2377Leu