Canonical Allele Identifier: CA346207152

Gene: MPV17

Linked Data

• gnomAD v4: 2-27311918-G-C
• MyVariant Identifiers: chr2:g.27534786G>C (hg19) ; chr2:g.27311918G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311918G>C , CM000664.2:g.27311918G>C	GRCh38
NC_000002.11:g.27534786G>C , CM000664.1:g.27534786G>C	GRCh37
NC_000002.10:g.27388290G>C	NCBI36
NG_008075.1:g.15646C>G
NG_033055.1:g.1345C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.442C>G MANE Select	ENSP00000369383.1:p.Leu148Val
ENST00000233545.6:c.442C>G	ENSP00000233545.2:p.Leu148Val
ENST00000357186.10:c.274C>G	ENSP00000349713.6:p.Leu92Val
ENST00000380044.5:c.442C>G	ENSP00000369383.1:p.Leu148Val
ENST00000402310.5:c.408+296C>G	ENSP00000383955.1:n.408+296C>G
ENST00000402722.5:c.*40+576C>G	ENSP00000386000.1:n.*40+576C>G
ENST00000403262.6:c.442C>G	ENSP00000385671.1:p.Leu148Val
ENST00000405076.5:c.253C>G	ENSP00000385175.1:p.Leu85Val
ENST00000405983.5:c.487C>G	ENSP00000384586.1:p.Leu163Val
ENST00000415514.5:c.*243C>G	ENSP00000388043.1:n.*243C>G
ENST00000426513.6:c.*107C>G	ENSP00000403824.2:n.*107C>G
ENST00000430991.5:c.276C>G
ENST00000616707.1:n.1470C>G
ENST00000620797.4:n.115C>G
ENST00000621183.4:n.745C>G
NM_002437.4:c.442C>G	NP_002428.1:p.Leu148Val
XM_005264326.2:c.442C>G	XP_005264383.1:p.Leu148Val
XM_005264327.2:c.283C>G	XP_005264384.1:p.Leu95Val
XM_006712021.2:c.394C>G	XP_006712084.1:p.Leu132Val
XM_005264326.4:c.442C>G	XP_005264383.1:p.Leu148Val
XM_006712021.3:c.394C>G	XP_006712084.1:p.Leu132Val
XM_017004150.1:c.424C>G	XP_016859639.1:p.Leu142Val
XM_017004151.1:c.394C>G	XP_016859640.1:p.Leu132Val
XM_017004152.1:c.283C>G	XP_016859641.1:p.Leu95Val
XM_024452913.1:c.394C>G	XP_024308681.1:p.Leu132Val
NM_002437.5:c.442C>G MANE Select	NP_002428.1:p.Leu148Val