Canonical Allele Identifier: CA346208606

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535573C>T (hg19) ; chr2:g.27312706C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312706C>T , CM000664.2:g.27312706C>T	GRCh38
NC_000002.11:g.27535573C>T , CM000664.1:g.27535573C>T	GRCh37
NC_000002.10:g.27389077C>T	NCBI36
NG_008075.1:g.14859G>A
NG_033055.1:g.558G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.253G>A MANE Select	ENSP00000369383.1:p.Ala85Thr
ENST00000233545.6:c.253G>A	ENSP00000233545.2:p.Ala85Thr
ENST00000357186.10:c.85G>A	ENSP00000349713.6:p.Ala29Thr
ENST00000380044.5:c.253G>A	ENSP00000369383.1:p.Ala85Thr
ENST00000402310.5:c.253G>A	ENSP00000383955.1:p.Ala85Thr
ENST00000402722.5:c.218G>A	ENSP00000386000.1:p.Cys73Tyr
ENST00000403262.6:c.253G>A	ENSP00000385671.1:p.Ala85Thr
ENST00000405076.5:c.186+288G>A	ENSP00000385175.1:n.186+288G>A
ENST00000405983.5:c.298G>A	ENSP00000384586.1:p.Ala100Thr
ENST00000415514.5:c.*54G>A	ENSP00000388043.1:n.*54G>A
ENST00000426513.6:c.218G>A	ENSP00000403824.2:p.Cys73Tyr
ENST00000428910.5:c.175G>A	ENSP00000405235.1:p.Ala59Thr
ENST00000430991.5:c.183G>A
ENST00000475085.1:n.281G>A
ENST00000616446.1:n.230G>A
ENST00000616707.1:n.682G>A
ENST00000617583.4:n.279G>A
ENST00000621183.4:n.309G>A
ENST00000621470.4:n.269G>A
ENST00000622003.4:n.426G>A
NM_002437.4:c.253G>A	NP_002428.1:p.Ala85Thr
XM_005264326.2:c.253G>A	XP_005264383.1:p.Ala85Thr
XM_005264327.2:c.94G>A	XP_005264384.1:p.Ala32Thr
XM_006712021.2:c.205G>A	XP_006712084.1:p.Ala69Thr
XM_005264326.4:c.253G>A	XP_005264383.1:p.Ala85Thr
XM_006712021.3:c.205G>A	XP_006712084.1:p.Ala69Thr
XM_017004150.1:c.235G>A	XP_016859639.1:p.Ala79Thr
XM_017004151.1:c.205G>A	XP_016859640.1:p.Ala69Thr
XM_017004152.1:c.94G>A	XP_016859641.1:p.Ala32Thr
XM_024452913.1:c.205G>A	XP_024308681.1:p.Ala69Thr
NM_002437.5:c.253G>A MANE Select	NP_002428.1:p.Ala85Thr