Canonical Allele Identifier: CA394563771

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786742T>A (hg19) ; chr16:g.3736741T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736741T>A , CM000678.2:g.3736741T>A	GRCh38
NC_000016.9:g.3786742T>A , CM000678.1:g.3786742T>A	GRCh37
NC_000016.8:g.3726743T>A	NCBI36
NG_009873.1:g.148380A>T
NG_009873.2:g.148973A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4469A>T MANE Select	ENSP00000262367.5:p.Asp1490Val
ENST00000262367.9:c.4469A>T	ENSP00000262367.5:p.Asp1490Val
ENST00000382070.7:c.4355A>T	ENSP00000371502.3:p.Asp1452Val
ENST00000570939.2:c.3104A>T	ENSP00000461002.2:p.Asp1035Val
ENST00000571763.5:n.259A>T
ENST00000574740.1:n.290A>T
ENST00000576720.1:n.3292A>T
NM_001079846.1:c.4355A>T	NP_001073315.1:p.Asp1452Val
NM_004380.2:c.4469A>T	NP_004371.2:p.Asp1490Val
XM_005255124.3:c.4424A>T	XP_005255181.1:p.Asp1475Val
XM_005255125.3:c.4052A>T	XP_005255182.1:p.Asp1351Val
XM_006720848.2:c.4208A>T	XP_006720911.1:p.Asp1403Val
XM_011522380.1:c.4415A>T	XP_011520682.1:p.Asp1472Val
XM_011522381.1:c.3716A>T	XP_011520683.1:p.Asp1239Val
XM_005255124.4:c.4424A>T	XP_005255181.1:p.Asp1475Val
XM_005255125.4:c.4052A>T	XP_005255182.1:p.Asp1351Val
XM_006720848.3:c.4208A>T	XP_006720911.1:p.Asp1403Val
XM_011522381.2:c.3716A>T	XP_011520683.1:p.Asp1239Val
XM_017022944.1:c.4463A>T	XP_016878433.1:p.Asp1488Val
NM_004380.3:c.4469A>T MANE Select	NP_004371.2:p.Asp1490Val