Canonical Allele Identifier: CA346205530

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532842C>G (hg19) ; chr2:g.27309974C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309974C>G , CM000664.2:g.27309974C>G	GRCh38
NC_000002.11:g.27532842C>G , CM000664.1:g.27532842C>G	GRCh37
NC_000002.10:g.27386346C>G	NCBI36
NG_008075.1:g.17590G>C
NG_033055.1:g.3289G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.469G>C MANE Select	ENSP00000369383.1:p.Val157Leu
ENST00000233545.6:c.469G>C	ENSP00000233545.2:p.Val157Leu
ENST00000357186.10:c.301G>C	ENSP00000349713.6:p.Val101Leu
ENST00000380044.5:c.469G>C	ENSP00000369383.1:p.Val157Leu
ENST00000402310.5:c.416G>C	ENSP00000383955.1:p.Arg139Pro
ENST00000402722.5:c.*48G>C	ENSP00000386000.1:n.*48G>C
ENST00000405076.5:c.280G>C	ENSP00000385175.1:p.Val94Leu
ENST00000405983.5:c.514G>C	ENSP00000384586.1:p.Val172Leu
ENST00000415514.5:c.*270G>C	ENSP00000388043.1:n.*270G>C
ENST00000426513.6:c.*134G>C	ENSP00000403824.2:n.*134G>C
ENST00000430991.5:c.303G>C
ENST00000620797.4:n.142G>C
ENST00000621183.4:n.772G>C
NM_002437.4:c.469G>C	NP_002428.1:p.Val157Leu
XM_005264326.2:c.469G>C	XP_005264383.1:p.Val157Leu
XM_005264327.2:c.310G>C	XP_005264384.1:p.Val104Leu
XM_006712021.2:c.421G>C	XP_006712084.1:p.Val141Leu
XM_005264326.4:c.469G>C	XP_005264383.1:p.Val157Leu
XM_006712021.3:c.421G>C	XP_006712084.1:p.Val141Leu
XM_017004150.1:c.451G>C	XP_016859639.1:p.Val151Leu
XM_017004151.1:c.421G>C	XP_016859640.1:p.Val141Leu
XM_017004152.1:c.310G>C	XP_016859641.1:p.Val104Leu
XM_024452913.1:c.421G>C	XP_024308681.1:p.Val141Leu
NM_002437.5:c.469G>C MANE Select	NP_002428.1:p.Val157Leu