Canonical Allele Identifier: CA346205569

Gene: MPV17

Linked Data

• dbSNP Id: rs1679367525
• MyVariant Identifiers: chr2:g.27532848A>T (hg19) ; chr2:g.27309980A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309980A>T , CM000664.2:g.27309980A>T	GRCh38
NC_000002.11:g.27532848A>T , CM000664.1:g.27532848A>T	GRCh37
NC_000002.10:g.27386352A>T	NCBI36
NG_008075.1:g.17584T>A
NG_033055.1:g.3283T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.463T>A MANE Select	ENSP00000369383.1:p.Leu155Met
ENST00000233545.6:c.463T>A	ENSP00000233545.2:p.Leu155Met
ENST00000357186.10:c.295T>A	ENSP00000349713.6:p.Leu99Met
ENST00000380044.5:c.463T>A	ENSP00000369383.1:p.Leu155Met
ENST00000402310.5:c.410T>A	ENSP00000383955.1:p.Val137Asp
ENST00000402722.5:c.*42T>A	ENSP00000386000.1:n.*42T>A
ENST00000405076.5:c.274T>A	ENSP00000385175.1:p.Leu92Met
ENST00000405983.5:c.508T>A	ENSP00000384586.1:p.Leu170Met
ENST00000415514.5:c.*264T>A	ENSP00000388043.1:n.*264T>A
ENST00000426513.6:c.*128T>A	ENSP00000403824.2:n.*128T>A
ENST00000430991.5:c.297T>A
ENST00000620797.4:n.136T>A
ENST00000621183.4:n.766T>A
NM_002437.4:c.463T>A	NP_002428.1:p.Leu155Met
XM_005264326.2:c.463T>A	XP_005264383.1:p.Leu155Met
XM_005264327.2:c.304T>A	XP_005264384.1:p.Leu102Met
XM_006712021.2:c.415T>A	XP_006712084.1:p.Leu139Met
XM_005264326.4:c.463T>A	XP_005264383.1:p.Leu155Met
XM_006712021.3:c.415T>A	XP_006712084.1:p.Leu139Met
XM_017004150.1:c.445T>A	XP_016859639.1:p.Leu149Met
XM_017004151.1:c.415T>A	XP_016859640.1:p.Leu139Met
XM_017004152.1:c.304T>A	XP_016859641.1:p.Leu102Met
XM_024452913.1:c.415T>A	XP_024308681.1:p.Leu139Met
NM_002437.5:c.463T>A MANE Select	NP_002428.1:p.Leu155Met