Canonical Allele Identifier: CA1575466

Gene: MPV17

Linked Data

• ClinVar Variation Id: 2794388
• ClinVar RCV Id: RCV003672806
• dbSNP Id: rs369282321
• ExAC: 2:27532804 C / G
• gnomAD v3: 2-27309936-C-G
• gnomAD v4: 2-27309936-C-G
• MyVariant Identifiers: chr2:g.27532804C>G (hg19) ; chr2:g.27309936C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309936C>G , CM000664.2:g.27309936C>G	GRCh38
NC_000002.11:g.27532804C>G , CM000664.1:g.27532804C>G	GRCh37
NC_000002.10:g.27386308C>G	NCBI36
NG_008075.1:g.17628G>C
NG_033055.1:g.3327G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.507G>C MANE Select	ENSP00000369383.1:p.Leu169=
ENST00000233545.6:c.507G>C	ENSP00000233545.2:p.Leu169=
ENST00000357186.10:c.339G>C	ENSP00000349713.6:p.Leu113=
ENST00000380044.5:c.507G>C	ENSP00000369383.1:p.Leu169=
ENST00000402310.5:c.454G>C	ENSP00000383955.1:p.Val152Leu
ENST00000402722.5:c.*86G>C	ENSP00000386000.1:n.*86G>C
ENST00000405076.5:c.318G>C	ENSP00000385175.1:p.Leu106=
ENST00000405983.5:c.552G>C	ENSP00000384586.1:p.Leu184=
ENST00000415514.5:c.*308G>C	ENSP00000388043.1:n.*308G>C
ENST00000426513.6:c.*172G>C	ENSP00000403824.2:n.*172G>C
ENST00000430991.5:c.341G>C
ENST00000620797.4:n.180G>C
ENST00000621183.4:n.810G>C
NM_002437.4:c.507G>C	NP_002428.1:p.Leu169=
XM_005264326.2:c.507G>C	XP_005264383.1:p.Leu169=
XM_005264327.2:c.348G>C	XP_005264384.1:p.Leu116=
XM_006712021.2:c.459G>C	XP_006712084.1:p.Leu153=
XM_005264326.4:c.507G>C	XP_005264383.1:p.Leu169=
XM_006712021.3:c.459G>C	XP_006712084.1:p.Leu153=
XM_017004150.1:c.489G>C	XP_016859639.1:p.Leu163=
XM_017004151.1:c.459G>C	XP_016859640.1:p.Leu153=
XM_017004152.1:c.348G>C	XP_016859641.1:p.Leu116=
XM_024452913.1:c.459G>C	XP_024308681.1:p.Leu153=
NM_002437.5:c.507G>C MANE Select	NP_002428.1:p.Leu169=