Canonical Allele Identifier: CA376365676

Gene: YME1L1

Linked Data

• ClinVar Variation Id: 2103883
• ClinVar RCV Id: RCV003041545
• MyVariant Identifiers: chr10:g.27400919A>G (hg19) ; chr10:g.27111990A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27111990A>G , CM000672.2:g.27111990A>G	GRCh38
NC_000010.10:g.27400919A>G , CM000672.1:g.27400919A>G	GRCh37
NC_000010.9:g.27440925A>G	NCBI36
NG_047122.1:g.48289T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376016.8:c.2138T>C MANE Select	ENSP00000365184.3:p.Leu713Ser
ENST00000326799.7:c.2309T>C	ENSP00000318480.3:p.Leu770Ser
ENST00000375972.7:c.2217+92T>C	ENSP00000365139.4:n.2217+92T>C
ENST00000376016.7:c.2138T>C	ENSP00000365184.3:p.Leu713Ser
ENST00000613434.4:c.2039T>C	ENSP00000481724.1:p.Leu680Ser
NM_001253866.1:c.2039T>C	NP_001240795.1:p.Leu680Ser
NM_014263.3:c.2138T>C	NP_055078.1:p.Leu713Ser
NM_139312.2:c.2309T>C	NP_647473.1:p.Leu770Ser
XM_011519300.1:c.2210T>C	XP_011517602.1:p.Leu737Ser
XM_011519300.3:c.2210T>C	XP_011517602.1:p.Leu737Ser
NM_014263.4:c.2138T>C MANE Select	NP_055078.1:p.Leu713Ser
NM_139312.3:c.2309T>C	NP_647473.1:p.Leu770Ser
NM_001253866.2:c.2039T>C	NP_001240795.1:p.Leu680Ser