Canonical Allele Identifier: CA346207168

Gene: MPV17

Linked Data

• gnomAD v4: 2-27311921-A-C
• MyVariant Identifiers: chr2:g.27534789A>C (hg19) ; chr2:g.27311921A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311921A>C , CM000664.2:g.27311921A>C	GRCh38
NC_000002.11:g.27534789A>C , CM000664.1:g.27534789A>C	GRCh37
NC_000002.10:g.27388293A>C	NCBI36
NG_008075.1:g.15643T>G
NG_033055.1:g.1342T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.439T>G MANE Select	ENSP00000369383.1:p.Tyr147Asp
ENST00000233545.6:c.439T>G	ENSP00000233545.2:p.Tyr147Asp
ENST00000357186.10:c.271T>G	ENSP00000349713.6:p.Tyr91Asp
ENST00000380044.5:c.439T>G	ENSP00000369383.1:p.Tyr147Asp
ENST00000402310.5:c.408+293T>G	ENSP00000383955.1:n.408+293T>G
ENST00000402722.5:c.*40+573T>G	ENSP00000386000.1:n.*40+573T>G
ENST00000403262.6:c.439T>G	ENSP00000385671.1:p.Tyr147Asp
ENST00000405076.5:c.250T>G	ENSP00000385175.1:p.Tyr84Asp
ENST00000405983.5:c.484T>G	ENSP00000384586.1:p.Tyr162Asp
ENST00000415514.5:c.*240T>G	ENSP00000388043.1:n.*240T>G
ENST00000426513.6:c.*104T>G	ENSP00000403824.2:n.*104T>G
ENST00000430991.5:c.273T>G
ENST00000616707.1:n.1467T>G
ENST00000620797.4:n.112T>G
ENST00000621183.4:n.742T>G
NM_002437.4:c.439T>G	NP_002428.1:p.Tyr147Asp
XM_005264326.2:c.439T>G	XP_005264383.1:p.Tyr147Asp
XM_005264327.2:c.280T>G	XP_005264384.1:p.Tyr94Asp
XM_006712021.2:c.391T>G	XP_006712084.1:p.Tyr131Asp
XM_005264326.4:c.439T>G	XP_005264383.1:p.Tyr147Asp
XM_006712021.3:c.391T>G	XP_006712084.1:p.Tyr131Asp
XM_017004150.1:c.421T>G	XP_016859639.1:p.Tyr141Asp
XM_017004151.1:c.391T>G	XP_016859640.1:p.Tyr131Asp
XM_017004152.1:c.280T>G	XP_016859641.1:p.Tyr94Asp
XM_024452913.1:c.391T>G	XP_024308681.1:p.Tyr131Asp
NM_002437.5:c.439T>G MANE Select	NP_002428.1:p.Tyr147Asp