Canonical Allele Identifier: CA324678

Gene: MPV17

Linked Data

• ClinVar Variation Id: 214663
• ClinVar RCV Id: RCV000200118 ; RCV003227470
• dbSNP Id: rs863224073
• gnomAD v3: 2-27312763-C-A
• gnomAD v4: 2-27312763-C-A
• MyVariant Identifiers: chr2:g.27535630C>A (hg19) ; chr2:g.27312763C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312763C>A , CM000664.2:g.27312763C>A	GRCh38
NC_000002.11:g.27535630C>A , CM000664.1:g.27535630C>A	GRCh37
NC_000002.10:g.27389134C>A	NCBI36
NG_008075.1:g.14802G>T
NG_033055.1:g.501G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.196G>T MANE Select	ENSP00000369383.1:p.Val66Leu
ENST00000233545.6:c.196G>T	ENSP00000233545.2:p.Val66Leu
ENST00000357186.10:c.28G>T	ENSP00000349713.6:p.Val10Leu
ENST00000380044.5:c.196G>T	ENSP00000369383.1:p.Val66Leu
ENST00000402310.5:c.196G>T	ENSP00000383955.1:p.Val66Leu
ENST00000402722.5:c.161G>T	ENSP00000386000.1:p.Gly54Val
ENST00000403262.6:c.196G>T	ENSP00000385671.1:p.Val66Leu
ENST00000405076.5:c.186+231G>T	ENSP00000385175.1:n.186+231G>T
ENST00000405983.5:c.241G>T	ENSP00000384586.1:p.Val81Leu
ENST00000415514.5:c.237G>T	ENSP00000388043.1:p.Trp79Cys
ENST00000426513.6:c.161G>T	ENSP00000403824.2:p.Gly54Val
ENST00000428910.5:c.118G>T	ENSP00000405235.1:p.Val40Leu
ENST00000430991.5:c.126G>T
ENST00000475085.1:n.224G>T
ENST00000616446.1:n.173G>T
ENST00000616707.1:n.625G>T
ENST00000617583.4:n.222G>T
ENST00000621183.4:n.252G>T
ENST00000621470.4:n.212G>T
ENST00000622003.4:n.369G>T
NM_002437.4:c.196G>T	NP_002428.1:p.Val66Leu
XM_005264326.2:c.196G>T	XP_005264383.1:p.Val66Leu
XM_005264327.2:c.37G>T	XP_005264384.1:p.Val13Leu
XM_006712021.2:c.148G>T	XP_006712084.1:p.Val50Leu
XM_005264326.4:c.196G>T	XP_005264383.1:p.Val66Leu
XM_006712021.3:c.148G>T	XP_006712084.1:p.Val50Leu
XM_017004150.1:c.178G>T	XP_016859639.1:p.Val60Leu
XM_017004151.1:c.148G>T	XP_016859640.1:p.Val50Leu
XM_017004152.1:c.37G>T	XP_016859641.1:p.Val13Leu
XM_024452913.1:c.148G>T	XP_024308681.1:p.Val50Leu
NM_002437.5:c.196G>T MANE Select	NP_002428.1:p.Val66Leu