Canonical Allele Identifier: CA346205369

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532806G>A (hg19) ; chr2:g.27309938G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309938G>A , CM000664.2:g.27309938G>A	GRCh38
NC_000002.11:g.27532806G>A , CM000664.1:g.27532806G>A	GRCh37
NC_000002.10:g.27386310G>A	NCBI36
NG_008075.1:g.17626C>T
NG_033055.1:g.3325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.505C>T MANE Select	ENSP00000369383.1:p.Leu169=
ENST00000233545.6:c.505C>T	ENSP00000233545.2:p.Leu169=
ENST00000357186.10:c.337C>T	ENSP00000349713.6:p.Leu113=
ENST00000380044.5:c.505C>T	ENSP00000369383.1:p.Leu169=
ENST00000402310.5:c.452C>T	ENSP00000383955.1:p.Pro151Leu
ENST00000402722.5:c.*84C>T	ENSP00000386000.1:n.*84C>T
ENST00000405076.5:c.316C>T	ENSP00000385175.1:p.Leu106=
ENST00000405983.5:c.550C>T	ENSP00000384586.1:p.Leu184=
ENST00000415514.5:c.*306C>T	ENSP00000388043.1:n.*306C>T
ENST00000426513.6:c.*170C>T	ENSP00000403824.2:n.*170C>T
ENST00000430991.5:c.339C>T
ENST00000620797.4:n.178C>T
ENST00000621183.4:n.808C>T
NM_002437.4:c.505C>T	NP_002428.1:p.Leu169=
XM_005264326.2:c.505C>T	XP_005264383.1:p.Leu169=
XM_005264327.2:c.346C>T	XP_005264384.1:p.Leu116=
XM_006712021.2:c.457C>T	XP_006712084.1:p.Leu153=
XM_005264326.4:c.505C>T	XP_005264383.1:p.Leu169=
XM_006712021.3:c.457C>T	XP_006712084.1:p.Leu153=
XM_017004150.1:c.487C>T	XP_016859639.1:p.Leu163=
XM_017004151.1:c.457C>T	XP_016859640.1:p.Leu153=
XM_017004152.1:c.346C>T	XP_016859641.1:p.Leu116=
XM_024452913.1:c.457C>T	XP_024308681.1:p.Leu153=
NM_002437.5:c.505C>T MANE Select	NP_002428.1:p.Leu169=