Canonical Allele Identifier: CA394563303

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786661T>A (hg19) ; chr16:g.3736660T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736660T>A , CM000678.2:g.3736660T>A	GRCh38
NC_000016.9:g.3786661T>A , CM000678.1:g.3786661T>A	GRCh37
NC_000016.8:g.3726662T>A	NCBI36
NG_009873.1:g.148461A>T
NG_009873.2:g.149054A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4550A>T MANE Select	ENSP00000262367.5:p.His1517Leu
ENST00000262367.9:c.4550A>T	ENSP00000262367.5:p.His1517Leu
ENST00000382070.7:c.4436A>T	ENSP00000371502.3:p.His1479Leu
ENST00000570939.2:c.3185A>T	ENSP00000461002.2:p.His1062Leu
ENST00000571763.5:n.340A>T
ENST00000574740.1:n.371A>T
ENST00000576720.1:n.3373A>T
NM_001079846.1:c.4436A>T	NP_001073315.1:p.His1479Leu
NM_004380.2:c.4550A>T	NP_004371.2:p.His1517Leu
XM_005255124.3:c.4505A>T	XP_005255181.1:p.His1502Leu
XM_005255125.3:c.4133A>T	XP_005255182.1:p.His1378Leu
XM_006720848.2:c.4289A>T	XP_006720911.1:p.His1430Leu
XM_011522380.1:c.4496A>T	XP_011520682.1:p.His1499Leu
XM_011522381.1:c.3797A>T	XP_011520683.1:p.His1266Leu
XM_005255124.4:c.4505A>T	XP_005255181.1:p.His1502Leu
XM_005255125.4:c.4133A>T	XP_005255182.1:p.His1378Leu
XM_006720848.3:c.4289A>T	XP_006720911.1:p.His1430Leu
XM_011522381.2:c.3797A>T	XP_011520683.1:p.His1266Leu
XM_017022944.1:c.4544A>T	XP_016878433.1:p.His1515Leu
NM_004380.3:c.4550A>T MANE Select	NP_004371.2:p.His1517Leu