Canonical Allele Identifier: CA346205409

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532821T>A (hg19) ; chr2:g.27309953T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309953T>A , CM000664.2:g.27309953T>A	GRCh38
NC_000002.11:g.27532821T>A , CM000664.1:g.27532821T>A	GRCh37
NC_000002.10:g.27386325T>A	NCBI36
NG_008075.1:g.17611A>T
NG_033055.1:g.3310A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.490A>T MANE Select	ENSP00000369383.1:p.Ile164Phe
ENST00000233545.6:c.490A>T	ENSP00000233545.2:p.Ile164Phe
ENST00000357186.10:c.322A>T	ENSP00000349713.6:p.Ile108Phe
ENST00000380044.5:c.490A>T	ENSP00000369383.1:p.Ile164Phe
ENST00000402310.5:c.437A>T	ENSP00000383955.1:p.Tyr146Phe
ENST00000402722.5:c.*69A>T	ENSP00000386000.1:n.*69A>T
ENST00000405076.5:c.301A>T	ENSP00000385175.1:p.Ile101Phe
ENST00000405983.5:c.535A>T	ENSP00000384586.1:p.Ile179Phe
ENST00000415514.5:c.*291A>T	ENSP00000388043.1:n.*291A>T
ENST00000426513.6:c.*155A>T	ENSP00000403824.2:n.*155A>T
ENST00000430991.5:c.324A>T
ENST00000620797.4:n.163A>T
ENST00000621183.4:n.793A>T
NM_002437.4:c.490A>T	NP_002428.1:p.Ile164Phe
XM_005264326.2:c.490A>T	XP_005264383.1:p.Ile164Phe
XM_005264327.2:c.331A>T	XP_005264384.1:p.Ile111Phe
XM_006712021.2:c.442A>T	XP_006712084.1:p.Ile148Phe
XM_005264326.4:c.490A>T	XP_005264383.1:p.Ile164Phe
XM_006712021.3:c.442A>T	XP_006712084.1:p.Ile148Phe
XM_017004150.1:c.472A>T	XP_016859639.1:p.Ile158Phe
XM_017004151.1:c.442A>T	XP_016859640.1:p.Ile148Phe
XM_017004152.1:c.331A>T	XP_016859641.1:p.Ile111Phe
XM_024452913.1:c.442A>T	XP_024308681.1:p.Ile148Phe
NM_002437.5:c.490A>T MANE Select	NP_002428.1:p.Ile164Phe