Canonical Allele Identifier: CA346208536

Gene: MPV17

Linked Data

• ClinVar Variation Id: 1160531
• ClinVar RCV Id: RCV001504709
• dbSNP Id: rs1679498066
• gnomAD v3: 2-27312695-C-T
• gnomAD v4: 2-27312695-C-T
• MyVariant Identifiers: chr2:g.27535562C>T (hg19) ; chr2:g.27312695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312695C>T , CM000664.2:g.27312695C>T	GRCh38
NC_000002.11:g.27535562C>T , CM000664.1:g.27535562C>T	GRCh37
NC_000002.10:g.27389066C>T	NCBI36
NG_008075.1:g.14870G>A
NG_033055.1:g.569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.264G>A MANE Select	ENSP00000369383.1:p.Lys88=
ENST00000233545.6:c.264G>A	ENSP00000233545.2:p.Lys88=
ENST00000357186.10:c.96G>A	ENSP00000349713.6:p.Lys32=
ENST00000380044.5:c.264G>A	ENSP00000369383.1:p.Lys88=
ENST00000402310.5:c.264G>A	ENSP00000383955.1:p.Lys88=
ENST00000402722.5:c.229G>A	ENSP00000386000.1:p.Asp77Asn
ENST00000403262.6:c.264G>A	ENSP00000385671.1:p.Lys88=
ENST00000405076.5:c.186+299G>A	ENSP00000385175.1:n.186+299G>A
ENST00000405983.5:c.309G>A	ENSP00000384586.1:p.Lys103=
ENST00000415514.5:c.*65G>A	ENSP00000388043.1:n.*65G>A
ENST00000426513.6:c.229G>A	ENSP00000403824.2:p.Asp77Asn
ENST00000428910.5:c.186G>A	ENSP00000405235.1:p.Lys62=
ENST00000430991.5:c.194G>A
ENST00000475085.1:n.292G>A
ENST00000616446.1:n.241G>A
ENST00000616707.1:n.693G>A
ENST00000617583.4:n.290G>A
ENST00000621183.4:n.320G>A
ENST00000621470.4:n.280G>A
ENST00000622003.4:n.437G>A
NM_002437.4:c.264G>A	NP_002428.1:p.Lys88=
XM_005264326.2:c.264G>A	XP_005264383.1:p.Lys88=
XM_005264327.2:c.105G>A	XP_005264384.1:p.Lys35=
XM_006712021.2:c.216G>A	XP_006712084.1:p.Lys72=
XM_005264326.4:c.264G>A	XP_005264383.1:p.Lys88=
XM_006712021.3:c.216G>A	XP_006712084.1:p.Lys72=
XM_017004150.1:c.246G>A	XP_016859639.1:p.Lys82=
XM_017004151.1:c.216G>A	XP_016859640.1:p.Lys72=
XM_017004152.1:c.105G>A	XP_016859641.1:p.Lys35=
XM_024452913.1:c.216G>A	XP_024308681.1:p.Lys72=
NM_002437.5:c.264G>A MANE Select	NP_002428.1:p.Lys88=