Canonical Allele Identifier: CA16044002

Gene: YME1L1

Linked Data

• ClinVar Variation Id: 374984
• ClinVar RCV Id: RCV000415698
• dbSNP Id: rs1057519312
• gnomAD v2: 10-27425300-G-A
• gnomAD v4: 10-27136371-G-A
• COSMIC: COSM5796008
• MyVariant Identifiers: chr10:g.27425300G>A (hg19) ; chr10:g.27136371G>A (hg38)
• PubMed: PMID:27495975

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27136371G>A , CM000672.2:g.27136371G>A	GRCh38
NC_000010.10:g.27425300G>A , CM000672.1:g.27425300G>A	GRCh37
NC_000010.9:g.27465306G>A	NCBI36
NG_047122.1:g.23908C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376016.8:c.445C>T MANE Select	ENSP00000365184.3:p.Arg149Trp
ENST00000326799.7:c.616C>T	ENSP00000318480.3:p.Arg206Trp
ENST00000375972.7:c.616C>T	ENSP00000365139.4:p.Arg206Trp
ENST00000376016.7:c.445C>T	ENSP00000365184.3:p.Arg149Trp
ENST00000396296.7:c.421C>T	ENSP00000379590.3:p.Arg141Trp
ENST00000427324.5:c.346C>T	ENSP00000398713.1:p.Arg116Trp
ENST00000491542.6:c.169-1390C>T	ENSP00000473557.1:n.169-1390C>T
ENST00000613434.4:c.346C>T	ENSP00000481724.1:p.Arg116Trp
NM_001253866.1:c.346C>T	NP_001240795.1:p.Arg116Trp
NM_014263.3:c.445C>T	NP_055078.1:p.Arg149Trp
NM_139312.2:c.616C>T	NP_647473.1:p.Arg206Trp
XM_011519300.1:c.517C>T	XP_011517602.1:p.Arg173Trp
XM_011519300.3:c.517C>T	XP_011517602.1:p.Arg173Trp
NM_014263.4:c.445C>T MANE Select	NP_055078.1:p.Arg149Trp
NM_139312.3:c.616C>T	NP_647473.1:p.Arg206Trp
NM_001253866.2:c.346C>T	NP_001240795.1:p.Arg116Trp