Canonical Allele Identifier: CA346208495

Gene: MPV17

Linked Data

• gnomAD v4: 2-27312689-C-G
• MyVariant Identifiers: chr2:g.27535556C>G (hg19) ; chr2:g.27312689C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312689C>G , CM000664.2:g.27312689C>G	GRCh38
NC_000002.11:g.27535556C>G , CM000664.1:g.27535556C>G	GRCh37
NC_000002.10:g.27389060C>G	NCBI36
NG_008075.1:g.14876G>C
NG_033055.1:g.575G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.270G>C MANE Select	ENSP00000369383.1:p.Leu90Phe
ENST00000233545.6:c.270G>C	ENSP00000233545.2:p.Leu90Phe
ENST00000357186.10:c.102G>C	ENSP00000349713.6:p.Leu34Phe
ENST00000380044.5:c.270G>C	ENSP00000369383.1:p.Leu90Phe
ENST00000402310.5:c.270G>C	ENSP00000383955.1:p.Leu90Phe
ENST00000402722.5:c.235G>C	ENSP00000386000.1:p.Val79Leu
ENST00000403262.6:c.270G>C	ENSP00000385671.1:p.Leu90Phe
ENST00000405076.5:c.186+305G>C	ENSP00000385175.1:n.186+305G>C
ENST00000405983.5:c.315G>C	ENSP00000384586.1:p.Leu105Phe
ENST00000415514.5:c.*71G>C	ENSP00000388043.1:n.*71G>C
ENST00000426513.6:c.235G>C	ENSP00000403824.2:p.Val79Leu
ENST00000428910.5:c.192G>C	ENSP00000405235.1:p.Leu64Phe
ENST00000430991.5:c.200G>C
ENST00000475085.1:n.298G>C
ENST00000616446.1:n.247G>C
ENST00000616707.1:n.699G>C
ENST00000617583.4:n.296G>C
ENST00000621183.4:n.326G>C
ENST00000621470.4:n.286G>C
ENST00000622003.4:n.443G>C
NM_002437.4:c.270G>C	NP_002428.1:p.Leu90Phe
XM_005264326.2:c.270G>C	XP_005264383.1:p.Leu90Phe
XM_005264327.2:c.111G>C	XP_005264384.1:p.Leu37Phe
XM_006712021.2:c.222G>C	XP_006712084.1:p.Leu74Phe
XM_005264326.4:c.270G>C	XP_005264383.1:p.Leu90Phe
XM_006712021.3:c.222G>C	XP_006712084.1:p.Leu74Phe
XM_017004150.1:c.252G>C	XP_016859639.1:p.Leu84Phe
XM_017004151.1:c.222G>C	XP_016859640.1:p.Leu74Phe
XM_017004152.1:c.111G>C	XP_016859641.1:p.Leu37Phe
XM_024452913.1:c.222G>C	XP_024308681.1:p.Leu74Phe
NM_002437.5:c.270G>C MANE Select	NP_002428.1:p.Leu90Phe