Canonical Allele Identifier: CA346205344

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532796T>A (hg19) ; chr2:g.27309928T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309928T>A , CM000664.2:g.27309928T>A	GRCh38
NC_000002.11:g.27532796T>A , CM000664.1:g.27532796T>A	GRCh37
NC_000002.10:g.27386300T>A	NCBI36
NG_008075.1:g.17636A>T
NG_033055.1:g.3335A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.515A>T MANE Select	ENSP00000369383.1:p.Lys172Met
ENST00000233545.6:c.515A>T	ENSP00000233545.2:p.Lys172Met
ENST00000357186.10:c.347A>T	ENSP00000349713.6:p.Lys116Met
ENST00000380044.5:c.515A>T	ENSP00000369383.1:p.Lys172Met
ENST00000402310.5:c.462A>T	ENSP00000383955.1:p.Glu154Asp
ENST00000402722.5:c.*94A>T	ENSP00000386000.1:n.*94A>T
ENST00000405076.5:c.326A>T	ENSP00000385175.1:p.Lys109Met
ENST00000405983.5:c.560A>T	ENSP00000384586.1:p.Lys187Met
ENST00000415514.5:c.*316A>T	ENSP00000388043.1:n.*316A>T
ENST00000426513.6:c.*180A>T	ENSP00000403824.2:n.*180A>T
ENST00000430991.5:c.349A>T
ENST00000620797.4:n.188A>T
ENST00000621183.4:n.818A>T
NM_002437.4:c.515A>T	NP_002428.1:p.Lys172Met
XM_005264326.2:c.515A>T	XP_005264383.1:p.Lys172Met
XM_005264327.2:c.356A>T	XP_005264384.1:p.Lys119Met
XM_006712021.2:c.467A>T	XP_006712084.1:p.Lys156Met
XM_005264326.4:c.515A>T	XP_005264383.1:p.Lys172Met
XM_006712021.3:c.467A>T	XP_006712084.1:p.Lys156Met
XM_017004150.1:c.497A>T	XP_016859639.1:p.Lys166Met
XM_017004151.1:c.467A>T	XP_016859640.1:p.Lys156Met
XM_017004152.1:c.356A>T	XP_016859641.1:p.Lys119Met
XM_024452913.1:c.467A>T	XP_024308681.1:p.Lys156Met
NM_002437.5:c.515A>T MANE Select	NP_002428.1:p.Lys172Met