Canonical Allele Identifier: CA44516130

Gene: MPV17

Linked Data

• ClinVar Variation Id: 3024360
• ClinVar RCV Id: RCV003882754
• dbSNP Id: rs1025721902
• MyVariant Identifiers: chr2:g.27532808T>C (hg19) ; chr2:g.27309940T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309940T>C , CM000664.2:g.27309940T>C	GRCh38
NC_000002.11:g.27532808T>C , CM000664.1:g.27532808T>C	GRCh37
NC_000002.10:g.27386312T>C	NCBI36
NG_008075.1:g.17624A>G
NG_033055.1:g.3323A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.503A>G MANE Select	ENSP00000369383.1:p.Tyr168Cys
ENST00000233545.6:c.503A>G	ENSP00000233545.2:p.Tyr168Cys
ENST00000357186.10:c.335A>G	ENSP00000349713.6:p.Tyr112Cys
ENST00000380044.5:c.503A>G	ENSP00000369383.1:p.Tyr168Cys
ENST00000402310.5:c.450A>G	ENSP00000383955.1:p.Leu150=
ENST00000402722.5:c.*82A>G	ENSP00000386000.1:n.*82A>G
ENST00000405076.5:c.314A>G	ENSP00000385175.1:p.Tyr105Cys
ENST00000405983.5:c.548A>G	ENSP00000384586.1:p.Tyr183Cys
ENST00000415514.5:c.*304A>G	ENSP00000388043.1:n.*304A>G
ENST00000426513.6:c.*168A>G	ENSP00000403824.2:n.*168A>G
ENST00000430991.5:c.337A>G
ENST00000620797.4:n.176A>G
ENST00000621183.4:n.806A>G
NM_002437.4:c.503A>G	NP_002428.1:p.Tyr168Cys
XM_005264326.2:c.503A>G	XP_005264383.1:p.Tyr168Cys
XM_005264327.2:c.344A>G	XP_005264384.1:p.Tyr115Cys
XM_006712021.2:c.455A>G	XP_006712084.1:p.Tyr152Cys
XM_005264326.4:c.503A>G	XP_005264383.1:p.Tyr168Cys
XM_006712021.3:c.455A>G	XP_006712084.1:p.Tyr152Cys
XM_017004150.1:c.485A>G	XP_016859639.1:p.Tyr162Cys
XM_017004151.1:c.455A>G	XP_016859640.1:p.Tyr152Cys
XM_017004152.1:c.344A>G	XP_016859641.1:p.Tyr115Cys
XM_024452913.1:c.455A>G	XP_024308681.1:p.Tyr152Cys
NM_002437.5:c.503A>G MANE Select	NP_002428.1:p.Tyr168Cys