Canonical Allele Identifier: CA394564038

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786809T>A (hg19) ; chr16:g.3736808T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736808T>A , CM000678.2:g.3736808T>A	GRCh38
NC_000016.9:g.3786809T>A , CM000678.1:g.3786809T>A	GRCh37
NC_000016.8:g.3726810T>A	NCBI36
NG_009873.1:g.148313A>T
NG_009873.2:g.148906A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4402A>T MANE Select	ENSP00000262367.5:p.Thr1468Ser
ENST00000262367.9:c.4402A>T	ENSP00000262367.5:p.Thr1468Ser
ENST00000382070.7:c.4288A>T	ENSP00000371502.3:p.Thr1430Ser
ENST00000570939.2:c.3037A>T	ENSP00000461002.2:p.Thr1013Ser
ENST00000571763.5:n.192A>T
ENST00000574740.1:n.223A>T
ENST00000576720.1:n.3225A>T
NM_001079846.1:c.4288A>T	NP_001073315.1:p.Thr1430Ser
NM_004380.2:c.4402A>T	NP_004371.2:p.Thr1468Ser
XM_005255124.3:c.4357A>T	XP_005255181.1:p.Thr1453Ser
XM_005255125.3:c.3985A>T	XP_005255182.1:p.Thr1329Ser
XM_006720848.2:c.4141A>T	XP_006720911.1:p.Thr1381Ser
XM_011522380.1:c.4348A>T	XP_011520682.1:p.Thr1450Ser
XM_011522381.1:c.3649A>T	XP_011520683.1:p.Thr1217Ser
XM_005255124.4:c.4357A>T	XP_005255181.1:p.Thr1453Ser
XM_005255125.4:c.3985A>T	XP_005255182.1:p.Thr1329Ser
XM_006720848.3:c.4141A>T	XP_006720911.1:p.Thr1381Ser
XM_011522381.2:c.3649A>T	XP_011520683.1:p.Thr1217Ser
XM_017022944.1:c.4396A>T	XP_016878433.1:p.Thr1466Ser
NM_004380.3:c.4402A>T MANE Select	NP_004371.2:p.Thr1468Ser