Canonical Allele Identifier: CA394563535

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786701T>A (hg19) ; chr16:g.3736700T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736700T>A , CM000678.2:g.3736700T>A	GRCh38
NC_000016.9:g.3786701T>A , CM000678.1:g.3786701T>A	GRCh37
NC_000016.8:g.3726702T>A	NCBI36
NG_009873.1:g.148421A>T
NG_009873.2:g.149014A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4510A>T MANE Select	ENSP00000262367.5:p.Lys1504Ter
ENST00000262367.9:c.4510A>T	ENSP00000262367.5:p.Lys1504Ter
ENST00000382070.7:c.4396A>T	ENSP00000371502.3:p.Lys1466Ter
ENST00000570939.2:c.3145A>T	ENSP00000461002.2:p.Lys1049Ter
ENST00000571763.5:n.300A>T
ENST00000574740.1:n.331A>T
ENST00000576720.1:n.3333A>T
NM_001079846.1:c.4396A>T	NP_001073315.1:p.Lys1466Ter
NM_004380.2:c.4510A>T	NP_004371.2:p.Lys1504Ter
XM_005255124.3:c.4465A>T	XP_005255181.1:p.Lys1489Ter
XM_005255125.3:c.4093A>T	XP_005255182.1:p.Lys1365Ter
XM_006720848.2:c.4249A>T	XP_006720911.1:p.Lys1417Ter
XM_011522380.1:c.4456A>T	XP_011520682.1:p.Lys1486Ter
XM_011522381.1:c.3757A>T	XP_011520683.1:p.Lys1253Ter
XM_005255124.4:c.4465A>T	XP_005255181.1:p.Lys1489Ter
XM_005255125.4:c.4093A>T	XP_005255182.1:p.Lys1365Ter
XM_006720848.3:c.4249A>T	XP_006720911.1:p.Lys1417Ter
XM_011522381.2:c.3757A>T	XP_011520683.1:p.Lys1253Ter
XM_017022944.1:c.4504A>T	XP_016878433.1:p.Lys1502Ter
NM_004380.3:c.4510A>T MANE Select	NP_004371.2:p.Lys1504Ter