Canonical Allele Identifier: CA346207799

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535369G>T (hg19) ; chr2:g.27312502G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312502G>T , CM000664.2:g.27312502G>T	GRCh38
NC_000002.11:g.27535369G>T , CM000664.1:g.27535369G>T	GRCh37
NC_000002.10:g.27388873G>T	NCBI36
NG_008075.1:g.15063C>A
NG_033055.1:g.762C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.367C>A MANE Select	ENSP00000369383.1:p.Leu123Ile
ENST00000233545.6:c.367C>A	ENSP00000233545.2:p.Leu123Ile
ENST00000357186.10:c.199C>A	ENSP00000349713.6:p.Leu67Ile
ENST00000380044.5:c.367C>A	ENSP00000369383.1:p.Leu123Ile
ENST00000402310.5:c.367C>A	ENSP00000383955.1:p.Leu123Ile
ENST00000402722.5:c.*32C>A	ENSP00000386000.1:n.*32C>A
ENST00000403262.6:c.367C>A	ENSP00000385671.1:p.Leu123Ile
ENST00000405076.5:c.187-256C>A	ENSP00000385175.1:n.187-256C>A
ENST00000405983.5:c.412C>A	ENSP00000384586.1:p.Leu138Ile
ENST00000415514.5:c.*168C>A	ENSP00000388043.1:n.*168C>A
ENST00000426513.6:c.*32C>A	ENSP00000403824.2:n.*32C>A
ENST00000428910.5:c.289C>A	ENSP00000405235.1:p.Leu97Ile
ENST00000430991.5:c.209+178C>A
ENST00000475085.1:n.395C>A
ENST00000616446.1:n.344C>A
ENST00000616707.1:n.886C>A
ENST00000617583.4:n.393C>A
ENST00000621183.4:n.423C>A
ENST00000621470.4:n.383C>A
ENST00000622003.4:n.540C>A
NM_002437.4:c.367C>A	NP_002428.1:p.Leu123Ile
XM_005264326.2:c.367C>A	XP_005264383.1:p.Leu123Ile
XM_005264327.2:c.208C>A	XP_005264384.1:p.Leu70Ile
XM_006712021.2:c.319C>A	XP_006712084.1:p.Leu107Ile
XM_005264326.4:c.367C>A	XP_005264383.1:p.Leu123Ile
XM_006712021.3:c.319C>A	XP_006712084.1:p.Leu107Ile
XM_017004150.1:c.349C>A	XP_016859639.1:p.Leu117Ile
XM_017004151.1:c.319C>A	XP_016859640.1:p.Leu107Ile
XM_017004152.1:c.208C>A	XP_016859641.1:p.Leu70Ile
XM_024452913.1:c.319C>A	XP_024308681.1:p.Leu107Ile
NM_002437.5:c.367C>A MANE Select	NP_002428.1:p.Leu123Ile