Canonical Allele Identifier: CA394563621

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736714-A-G
• COSMIC: COSM88752
• MyVariant Identifiers: chr16:g.3786715A>G (hg19) ; chr16:g.3736714A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4496T>C MANE Select	ENSP00000262367.5:p.Leu1499Pro
ENST00000262367.9:c.4496T>C	ENSP00000262367.5:p.Leu1499Pro
ENST00000382070.7:c.4382T>C	ENSP00000371502.3:p.Leu1461Pro
ENST00000570939.2:c.3131T>C	ENSP00000461002.2:p.Leu1044Pro
ENST00000571763.5:n.286T>C
ENST00000574740.1:n.317T>C
ENST00000576720.1:n.3319T>C
NM_001079846.1:c.4382T>C	NP_001073315.1:p.Leu1461Pro
NM_004380.2:c.4496T>C	NP_004371.2:p.Leu1499Pro
XM_005255124.3:c.4451T>C	XP_005255181.1:p.Leu1484Pro
XM_005255125.3:c.4079T>C	XP_005255182.1:p.Leu1360Pro
XM_006720848.2:c.4235T>C	XP_006720911.1:p.Leu1412Pro
XM_011522380.1:c.4442T>C	XP_011520682.1:p.Leu1481Pro
XM_011522381.1:c.3743T>C	XP_011520683.1:p.Leu1248Pro
XM_005255124.4:c.4451T>C	XP_005255181.1:p.Leu1484Pro
XM_005255125.4:c.4079T>C	XP_005255182.1:p.Leu1360Pro
XM_006720848.3:c.4235T>C	XP_006720911.1:p.Leu1412Pro
XM_011522381.2:c.3743T>C	XP_011520683.1:p.Leu1248Pro
XM_017022944.1:c.4490T>C	XP_016878433.1:p.Leu1497Pro
NM_004380.3:c.4496T>C MANE Select	NP_004371.2:p.Leu1499Pro