Canonical Allele Identifier: CA394553891

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778840G>T (hg19) ; chr16:g.3728839G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728839G>T , CM000678.2:g.3728839G>T	GRCh38
NC_000016.9:g.3778840G>T , CM000678.1:g.3778840G>T	GRCh37
NC_000016.8:g.3718841G>T	NCBI36
NG_009873.1:g.156282C>A
NG_009873.2:g.156875C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6208C>A MANE Select	ENSP00000262367.5:p.Leu2070Met
ENST00000262367.9:c.6208C>A	ENSP00000262367.5:p.Leu2070Met
ENST00000382070.7:c.6094C>A	ENSP00000371502.3:p.Leu2032Met
NM_001079846.1:c.6094C>A	NP_001073315.1:p.Leu2032Met
NM_004380.2:c.6208C>A	NP_004371.2:p.Leu2070Met
XM_005255124.3:c.6163C>A	XP_005255181.1:p.Leu2055Met
XM_005255125.3:c.5791C>A	XP_005255182.1:p.Leu1931Met
XM_006720848.2:c.5947C>A	XP_006720911.1:p.Leu1983Met
XM_011522380.1:c.6154C>A	XP_011520682.1:p.Leu2052Met
XM_011522381.1:c.5455C>A	XP_011520683.1:p.Leu1819Met
XM_005255124.4:c.6163C>A	XP_005255181.1:p.Leu2055Met
XM_005255125.4:c.5791C>A	XP_005255182.1:p.Leu1931Met
XM_006720848.3:c.5947C>A	XP_006720911.1:p.Leu1983Met
XM_011522381.2:c.5455C>A	XP_011520683.1:p.Leu1819Met
XM_017022944.1:c.6202C>A	XP_016878433.1:p.Leu2068Met
NM_004380.3:c.6208C>A MANE Select	NP_004371.2:p.Leu2070Met