Canonical Allele Identifier: CA376367766

Gene: YME1L1

Linked Data

• ClinVar Variation Id: 2015159
• ClinVar RCV Id: RCV002846207
• MyVariant Identifiers: chr10:g.27403513A>T (hg19) ; chr10:g.27114584A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27114584A>T , CM000672.2:g.27114584A>T	GRCh38
NC_000010.10:g.27403513A>T , CM000672.1:g.27403513A>T	GRCh37
NC_000010.9:g.27443519A>T	NCBI36
NG_047122.1:g.45695T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376016.8:c.1944T>A MANE Select	ENSP00000365184.3:p.Asp648Glu
ENST00000326799.7:c.2115T>A	ENSP00000318480.3:p.Asp705Glu
ENST00000375972.7:c.2115T>A	ENSP00000365139.4:p.Asp705Glu
ENST00000376016.7:c.1944T>A	ENSP00000365184.3:p.Asp648Glu
ENST00000613434.4:c.1845T>A	ENSP00000481724.1:p.Asp615Glu
NM_001253866.1:c.1845T>A	NP_001240795.1:p.Asp615Glu
NM_014263.3:c.1944T>A	NP_055078.1:p.Asp648Glu
NM_139312.2:c.2115T>A	NP_647473.1:p.Asp705Glu
XM_011519300.1:c.2016T>A	XP_011517602.1:p.Asp672Glu
XM_011519300.3:c.2016T>A	XP_011517602.1:p.Asp672Glu
NM_014263.4:c.1944T>A MANE Select	NP_055078.1:p.Asp648Glu
NM_139312.3:c.2115T>A	NP_647473.1:p.Asp705Glu
NM_001253866.2:c.1845T>A	NP_001240795.1:p.Asp615Glu