Canonical Allele Identifier: CA394563570

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329455
• COSMIC: COSM1301957
• MyVariant Identifiers: chr16:g.3786706C>T (hg19) ; chr16:g.3736705C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736705C>T , CM000678.2:g.3736705C>T	GRCh38
NC_000016.9:g.3786706C>T , CM000678.1:g.3786706C>T	GRCh37
NC_000016.8:g.3726707C>T	NCBI36
NG_009873.1:g.148416G>A
NG_009873.2:g.149009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4505G>A MANE Select	ENSP00000262367.5:p.Trp1502Ter
ENST00000262367.9:c.4505G>A	ENSP00000262367.5:p.Trp1502Ter
ENST00000382070.7:c.4391G>A	ENSP00000371502.3:p.Trp1464Ter
ENST00000570939.2:c.3140G>A	ENSP00000461002.2:p.Trp1047Ter
ENST00000571763.5:n.295G>A
ENST00000574740.1:n.326G>A
ENST00000576720.1:n.3328G>A
NM_001079846.1:c.4391G>A	NP_001073315.1:p.Trp1464Ter
NM_004380.2:c.4505G>A	NP_004371.2:p.Trp1502Ter
XM_005255124.3:c.4460G>A	XP_005255181.1:p.Trp1487Ter
XM_005255125.3:c.4088G>A	XP_005255182.1:p.Trp1363Ter
XM_006720848.2:c.4244G>A	XP_006720911.1:p.Trp1415Ter
XM_011522380.1:c.4451G>A	XP_011520682.1:p.Trp1484Ter
XM_011522381.1:c.3752G>A	XP_011520683.1:p.Trp1251Ter
XM_005255124.4:c.4460G>A	XP_005255181.1:p.Trp1487Ter
XM_005255125.4:c.4088G>A	XP_005255182.1:p.Trp1363Ter
XM_006720848.3:c.4244G>A	XP_006720911.1:p.Trp1415Ter
XM_011522381.2:c.3752G>A	XP_011520683.1:p.Trp1251Ter
XM_017022944.1:c.4499G>A	XP_016878433.1:p.Trp1500Ter
NM_004380.3:c.4505G>A MANE Select	NP_004371.2:p.Trp1502Ter