Canonical Allele Identifier: CA346209514

Gene: MPV17

Linked Data

• dbSNP Id: rs2148216430
• MyVariant Identifiers: chr2:g.27535966C>T (hg19) ; chr2:g.27313099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313099C>T , CM000664.2:g.27313099C>T	GRCh38
NC_000002.11:g.27535966C>T , CM000664.1:g.27535966C>T	GRCh37
NC_000002.10:g.27389470C>T	NCBI36
NG_008075.1:g.14466G>A
NG_033055.1:g.165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.81G>A MANE Select	ENSP00000369383.1:p.Met27Ile
ENST00000233545.6:c.81G>A	ENSP00000233545.2:p.Met27Ile
ENST00000357186.10:c.19-327G>A	ENSP00000349713.6:n.19-327G>A
ENST00000380044.5:c.81G>A	ENSP00000369383.1:p.Met27Ile
ENST00000402310.5:c.81G>A	ENSP00000383955.1:p.Met27Ile
ENST00000402722.5:c.71-25G>A	ENSP00000386000.1:n.71-25G>A
ENST00000403262.6:c.81G>A	ENSP00000385671.1:p.Met27Ile
ENST00000405076.5:c.81G>A	ENSP00000385175.1:p.Met27Ile
ENST00000405983.5:c.126G>A	ENSP00000384586.1:p.Met42Ile
ENST00000415514.5:c.228-327G>A	ENSP00000388043.1:n.228-327G>A
ENST00000426513.6:c.71-25G>A	ENSP00000403824.2:n.71-25G>A
ENST00000428910.5:c.3G>A	ENSP00000405235.1:p.Met1Ile
ENST00000430991.5:c.11G>A
ENST00000616446.1:n.58G>A
ENST00000616707.1:n.289G>A
ENST00000617583.4:n.107G>A
ENST00000621183.4:n.137G>A
ENST00000621470.4:n.122-25G>A
ENST00000622003.4:n.254G>A
NM_002437.4:c.81G>A	NP_002428.1:p.Met27Ile
XM_005264326.2:c.81G>A	XP_005264383.1:p.Met27Ile
XM_005264327.2:c.-54-25G>A	XP_005264384.1:n.-54-25G>A
XM_006712021.2:c.33G>A	XP_006712084.1:p.Met11Ile
XM_005264326.4:c.81G>A	XP_005264383.1:p.Met27Ile
XM_006712021.3:c.33G>A	XP_006712084.1:p.Met11Ile
XM_017004150.1:c.63G>A	XP_016859639.1:p.Met21Ile
XM_017004151.1:c.33G>A	XP_016859640.1:p.Met11Ile
XM_017004152.1:c.-54-25G>A	XP_016859641.1:n.-54-25G>A
XM_024452913.1:c.33G>A	XP_024308681.1:p.Met11Ile
NM_002437.5:c.81G>A MANE Select	NP_002428.1:p.Met27Ile