Canonical Allele Identifier: CA346207174

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27534790G>C (hg19) ; chr2:g.27311922G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311922G>C , CM000664.2:g.27311922G>C	GRCh38
NC_000002.11:g.27534790G>C , CM000664.1:g.27534790G>C	GRCh37
NC_000002.10:g.27388294G>C	NCBI36
NG_008075.1:g.15642C>G
NG_033055.1:g.1341C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.438C>G MANE Select	ENSP00000369383.1:p.Phe146Leu
ENST00000233545.6:c.438C>G	ENSP00000233545.2:p.Phe146Leu
ENST00000357186.10:c.270C>G	ENSP00000349713.6:p.Phe90Leu
ENST00000380044.5:c.438C>G	ENSP00000369383.1:p.Phe146Leu
ENST00000402310.5:c.408+292C>G	ENSP00000383955.1:n.408+292C>G
ENST00000402722.5:c.*40+572C>G	ENSP00000386000.1:n.*40+572C>G
ENST00000403262.6:c.438C>G	ENSP00000385671.1:p.Phe146Leu
ENST00000405076.5:c.249C>G	ENSP00000385175.1:p.Phe83Leu
ENST00000405983.5:c.483C>G	ENSP00000384586.1:p.Phe161Leu
ENST00000415514.5:c.*239C>G	ENSP00000388043.1:n.*239C>G
ENST00000426513.6:c.*103C>G	ENSP00000403824.2:n.*103C>G
ENST00000430991.5:c.272C>G
ENST00000616707.1:n.1466C>G
ENST00000620797.4:n.111C>G
ENST00000621183.4:n.741C>G
NM_002437.4:c.438C>G	NP_002428.1:p.Phe146Leu
XM_005264326.2:c.438C>G	XP_005264383.1:p.Phe146Leu
XM_005264327.2:c.279C>G	XP_005264384.1:p.Phe93Leu
XM_006712021.2:c.390C>G	XP_006712084.1:p.Phe130Leu
XM_005264326.4:c.438C>G	XP_005264383.1:p.Phe146Leu
XM_006712021.3:c.390C>G	XP_006712084.1:p.Phe130Leu
XM_017004150.1:c.420C>G	XP_016859639.1:p.Phe140Leu
XM_017004151.1:c.390C>G	XP_016859640.1:p.Phe130Leu
XM_017004152.1:c.279C>G	XP_016859641.1:p.Phe93Leu
XM_024452913.1:c.390C>G	XP_024308681.1:p.Phe130Leu
NM_002437.5:c.438C>G MANE Select	NP_002428.1:p.Phe146Leu