Canonical Allele Identifier: CA394563624

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329532
• COSMIC: COSM220497
• MyVariant Identifiers: chr16:g.3786715A>T (hg19) ; chr16:g.3736714A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736714A>T , CM000678.2:g.3736714A>T	GRCh38
NC_000016.9:g.3786715A>T , CM000678.1:g.3786715A>T	GRCh37
NC_000016.8:g.3726716A>T	NCBI36
NG_009873.1:g.148407T>A
NG_009873.2:g.149000T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4496T>A MANE Select	ENSP00000262367.5:p.Leu1499Gln
ENST00000262367.9:c.4496T>A	ENSP00000262367.5:p.Leu1499Gln
ENST00000382070.7:c.4382T>A	ENSP00000371502.3:p.Leu1461Gln
ENST00000570939.2:c.3131T>A	ENSP00000461002.2:p.Leu1044Gln
ENST00000571763.5:n.286T>A
ENST00000574740.1:n.317T>A
ENST00000576720.1:n.3319T>A
NM_001079846.1:c.4382T>A	NP_001073315.1:p.Leu1461Gln
NM_004380.2:c.4496T>A	NP_004371.2:p.Leu1499Gln
XM_005255124.3:c.4451T>A	XP_005255181.1:p.Leu1484Gln
XM_005255125.3:c.4079T>A	XP_005255182.1:p.Leu1360Gln
XM_006720848.2:c.4235T>A	XP_006720911.1:p.Leu1412Gln
XM_011522380.1:c.4442T>A	XP_011520682.1:p.Leu1481Gln
XM_011522381.1:c.3743T>A	XP_011520683.1:p.Leu1248Gln
XM_005255124.4:c.4451T>A	XP_005255181.1:p.Leu1484Gln
XM_005255125.4:c.4079T>A	XP_005255182.1:p.Leu1360Gln
XM_006720848.3:c.4235T>A	XP_006720911.1:p.Leu1412Gln
XM_011522381.2:c.3743T>A	XP_011520683.1:p.Leu1248Gln
XM_017022944.1:c.4490T>A	XP_016878433.1:p.Leu1497Gln
NM_004380.3:c.4496T>A MANE Select	NP_004371.2:p.Leu1499Gln