Canonical Allele Identifier: CA394563517

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329384
• MyVariant Identifiers: chr16:g.3786698T>A (hg19) ; chr16:g.3736697T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736697T>A , CM000678.2:g.3736697T>A	GRCh38
NC_000016.9:g.3786698T>A , CM000678.1:g.3786698T>A	GRCh37
NC_000016.8:g.3726699T>A	NCBI36
NG_009873.1:g.148424A>T
NG_009873.2:g.149017A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4513A>T MANE Select	ENSP00000262367.5:p.Lys1505Ter
ENST00000262367.9:c.4513A>T	ENSP00000262367.5:p.Lys1505Ter
ENST00000382070.7:c.4399A>T	ENSP00000371502.3:p.Lys1467Ter
ENST00000570939.2:c.3148A>T	ENSP00000461002.2:p.Lys1050Ter
ENST00000571763.5:n.303A>T
ENST00000574740.1:n.334A>T
ENST00000576720.1:n.3336A>T
NM_001079846.1:c.4399A>T	NP_001073315.1:p.Lys1467Ter
NM_004380.2:c.4513A>T	NP_004371.2:p.Lys1505Ter
XM_005255124.3:c.4468A>T	XP_005255181.1:p.Lys1490Ter
XM_005255125.3:c.4096A>T	XP_005255182.1:p.Lys1366Ter
XM_006720848.2:c.4252A>T	XP_006720911.1:p.Lys1418Ter
XM_011522380.1:c.4459A>T	XP_011520682.1:p.Lys1487Ter
XM_011522381.1:c.3760A>T	XP_011520683.1:p.Lys1254Ter
XM_005255124.4:c.4468A>T	XP_005255181.1:p.Lys1490Ter
XM_005255125.4:c.4096A>T	XP_005255182.1:p.Lys1366Ter
XM_006720848.3:c.4252A>T	XP_006720911.1:p.Lys1418Ter
XM_011522381.2:c.3760A>T	XP_011520683.1:p.Lys1254Ter
XM_017022944.1:c.4507A>T	XP_016878433.1:p.Lys1503Ter
NM_004380.3:c.4513A>T MANE Select	NP_004371.2:p.Lys1505Ter