Canonical Allele Identifier: CA346207180

Gene: MPV17

Linked Data

• gnomAD v4: 2-27311923-A-C
• MyVariant Identifiers: chr2:g.27534791A>C (hg19) ; chr2:g.27311923A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311923A>C , CM000664.2:g.27311923A>C	GRCh38
NC_000002.11:g.27534791A>C , CM000664.1:g.27534791A>C	GRCh37
NC_000002.10:g.27388295A>C	NCBI36
NG_008075.1:g.15641T>G
NG_033055.1:g.1340T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.437T>G MANE Select	ENSP00000369383.1:p.Phe146Cys
ENST00000233545.6:c.437T>G	ENSP00000233545.2:p.Phe146Cys
ENST00000357186.10:c.269T>G	ENSP00000349713.6:p.Phe90Cys
ENST00000380044.5:c.437T>G	ENSP00000369383.1:p.Phe146Cys
ENST00000402310.5:c.408+291T>G	ENSP00000383955.1:n.408+291T>G
ENST00000402722.5:c.*40+571T>G	ENSP00000386000.1:n.*40+571T>G
ENST00000403262.6:c.437T>G	ENSP00000385671.1:p.Phe146Cys
ENST00000405076.5:c.248T>G	ENSP00000385175.1:p.Phe83Cys
ENST00000405983.5:c.482T>G	ENSP00000384586.1:p.Phe161Cys
ENST00000415514.5:c.*238T>G	ENSP00000388043.1:n.*238T>G
ENST00000426513.6:c.*102T>G	ENSP00000403824.2:n.*102T>G
ENST00000430991.5:c.271T>G
ENST00000616707.1:n.1465T>G
ENST00000620797.4:n.110T>G
ENST00000621183.4:n.740T>G
NM_002437.4:c.437T>G	NP_002428.1:p.Phe146Cys
XM_005264326.2:c.437T>G	XP_005264383.1:p.Phe146Cys
XM_005264327.2:c.278T>G	XP_005264384.1:p.Phe93Cys
XM_006712021.2:c.389T>G	XP_006712084.1:p.Phe130Cys
XM_005264326.4:c.437T>G	XP_005264383.1:p.Phe146Cys
XM_006712021.3:c.389T>G	XP_006712084.1:p.Phe130Cys
XM_017004150.1:c.419T>G	XP_016859639.1:p.Phe140Cys
XM_017004151.1:c.389T>G	XP_016859640.1:p.Phe130Cys
XM_017004152.1:c.278T>G	XP_016859641.1:p.Phe93Cys
XM_024452913.1:c.389T>G	XP_024308681.1:p.Phe130Cys
NM_002437.5:c.437T>G MANE Select	NP_002428.1:p.Phe146Cys