Canonical Allele Identifier: CA346205337

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532794C>A (hg19) ; chr2:g.27309926C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309926C>A , CM000664.2:g.27309926C>A	GRCh38
NC_000002.11:g.27532794C>A , CM000664.1:g.27532794C>A	GRCh37
NC_000002.10:g.27386298C>A	NCBI36
NG_008075.1:g.17638G>T
NG_033055.1:g.3337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.517G>T MANE Select	ENSP00000369383.1:p.Ala173Ser
ENST00000233545.6:c.517G>T	ENSP00000233545.2:p.Ala173Ser
ENST00000357186.10:c.349G>T	ENSP00000349713.6:p.Ala117Ser
ENST00000380044.5:c.517G>T	ENSP00000369383.1:p.Ala173Ser
ENST00000402310.5:c.464G>T	ENSP00000383955.1:p.Gly155Val
ENST00000402722.5:c.*96G>T	ENSP00000386000.1:n.*96G>T
ENST00000405076.5:c.328G>T	ENSP00000385175.1:p.Ala110Ser
ENST00000405983.5:c.562G>T	ENSP00000384586.1:p.Ala188Ser
ENST00000415514.5:c.*318G>T	ENSP00000388043.1:n.*318G>T
ENST00000426513.6:c.*182G>T	ENSP00000403824.2:n.*182G>T
ENST00000430991.5:c.351G>T
ENST00000620797.4:n.190G>T
ENST00000621183.4:n.820G>T
NM_002437.4:c.517G>T	NP_002428.1:p.Ala173Ser
XM_005264326.2:c.517G>T	XP_005264383.1:p.Ala173Ser
XM_005264327.2:c.358G>T	XP_005264384.1:p.Ala120Ser
XM_006712021.2:c.469G>T	XP_006712084.1:p.Ala157Ser
XM_005264326.4:c.517G>T	XP_005264383.1:p.Ala173Ser
XM_006712021.3:c.469G>T	XP_006712084.1:p.Ala157Ser
XM_017004150.1:c.499G>T	XP_016859639.1:p.Ala167Ser
XM_017004151.1:c.469G>T	XP_016859640.1:p.Ala157Ser
XM_017004152.1:c.358G>T	XP_016859641.1:p.Ala120Ser
XM_024452913.1:c.469G>T	XP_024308681.1:p.Ala157Ser
NM_002437.5:c.517G>T MANE Select	NP_002428.1:p.Ala173Ser