Canonical Allele Identifier: CA394554213

Gene: CREBBP

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6104T>G MANE Select	ENSP00000262367.5:p.Leu2035Trp
ENST00000262367.9:c.6104T>G	ENSP00000262367.5:p.Leu2035Trp
ENST00000382070.7:c.5990T>G	ENSP00000371502.3:p.Leu1997Trp
NM_001079846.1:c.5990T>G	NP_001073315.1:p.Leu1997Trp
NM_004380.2:c.6104T>G	NP_004371.2:p.Leu2035Trp
XM_005255124.3:c.6059T>G	XP_005255181.1:p.Leu2020Trp
XM_005255125.3:c.5687T>G	XP_005255182.1:p.Leu1896Trp
XM_006720848.2:c.5843T>G	XP_006720911.1:p.Leu1948Trp
XM_011522380.1:c.6050T>G	XP_011520682.1:p.Leu2017Trp
XM_011522381.1:c.5351T>G	XP_011520683.1:p.Leu1784Trp
XM_005255124.4:c.6059T>G	XP_005255181.1:p.Leu2020Trp
XM_005255125.4:c.5687T>G	XP_005255182.1:p.Leu1896Trp
XM_006720848.3:c.5843T>G	XP_006720911.1:p.Leu1948Trp
XM_011522381.2:c.5351T>G	XP_011520683.1:p.Leu1784Trp
XM_017022944.1:c.6098T>G	XP_016878433.1:p.Leu2033Trp
NM_004380.3:c.6104T>G MANE Select	NP_004371.2:p.Leu2035Trp