Canonical Allele Identifier: CA394554214

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151306140
• MyVariant Identifiers: chr16:g.3778944A>T (hg19) ; chr16:g.3728943A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728943A>T , CM000678.2:g.3728943A>T	GRCh38
NC_000016.9:g.3778944A>T , CM000678.1:g.3778944A>T	GRCh37
NC_000016.8:g.3718945A>T	NCBI36
NG_009873.1:g.156178T>A
NG_009873.2:g.156771T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6104T>A MANE Select	ENSP00000262367.5:p.Leu2035Ter
ENST00000262367.9:c.6104T>A	ENSP00000262367.5:p.Leu2035Ter
ENST00000382070.7:c.5990T>A	ENSP00000371502.3:p.Leu1997Ter
NM_001079846.1:c.5990T>A	NP_001073315.1:p.Leu1997Ter
NM_004380.2:c.6104T>A	NP_004371.2:p.Leu2035Ter
XM_005255124.3:c.6059T>A	XP_005255181.1:p.Leu2020Ter
XM_005255125.3:c.5687T>A	XP_005255182.1:p.Leu1896Ter
XM_006720848.2:c.5843T>A	XP_006720911.1:p.Leu1948Ter
XM_011522380.1:c.6050T>A	XP_011520682.1:p.Leu2017Ter
XM_011522381.1:c.5351T>A	XP_011520683.1:p.Leu1784Ter
XM_005255124.4:c.6059T>A	XP_005255181.1:p.Leu2020Ter
XM_005255125.4:c.5687T>A	XP_005255182.1:p.Leu1896Ter
XM_006720848.3:c.5843T>A	XP_006720911.1:p.Leu1948Ter
XM_011522381.2:c.5351T>A	XP_011520683.1:p.Leu1784Ter
XM_017022944.1:c.6098T>A	XP_016878433.1:p.Leu2033Ter
NM_004380.3:c.6104T>A MANE Select	NP_004371.2:p.Leu2035Ter