Canonical Allele Identifier: CA346205367

Gene: MPV17

Linked Data

• gnomAD v4: 2-27309937-A-G
• MyVariant Identifiers: chr2:g.27532805A>G (hg19) ; chr2:g.27309937A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309937A>G , CM000664.2:g.27309937A>G	GRCh38
NC_000002.11:g.27532805A>G , CM000664.1:g.27532805A>G	GRCh37
NC_000002.10:g.27386309A>G	NCBI36
NG_008075.1:g.17627T>C
NG_033055.1:g.3326T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.506T>C MANE Select	ENSP00000369383.1:p.Leu169Pro
ENST00000233545.6:c.506T>C	ENSP00000233545.2:p.Leu169Pro
ENST00000357186.10:c.338T>C	ENSP00000349713.6:p.Leu113Pro
ENST00000380044.5:c.506T>C	ENSP00000369383.1:p.Leu169Pro
ENST00000402310.5:c.453T>C	ENSP00000383955.1:p.Pro151=
ENST00000402722.5:c.*85T>C	ENSP00000386000.1:n.*85T>C
ENST00000405076.5:c.317T>C	ENSP00000385175.1:p.Leu106Pro
ENST00000405983.5:c.551T>C	ENSP00000384586.1:p.Leu184Pro
ENST00000415514.5:c.*307T>C	ENSP00000388043.1:n.*307T>C
ENST00000426513.6:c.*171T>C	ENSP00000403824.2:n.*171T>C
ENST00000430991.5:c.340T>C
ENST00000620797.4:n.179T>C
ENST00000621183.4:n.809T>C
NM_002437.4:c.506T>C	NP_002428.1:p.Leu169Pro
XM_005264326.2:c.506T>C	XP_005264383.1:p.Leu169Pro
XM_005264327.2:c.347T>C	XP_005264384.1:p.Leu116Pro
XM_006712021.2:c.458T>C	XP_006712084.1:p.Leu153Pro
XM_005264326.4:c.506T>C	XP_005264383.1:p.Leu169Pro
XM_006712021.3:c.458T>C	XP_006712084.1:p.Leu153Pro
XM_017004150.1:c.488T>C	XP_016859639.1:p.Leu163Pro
XM_017004151.1:c.458T>C	XP_016859640.1:p.Leu153Pro
XM_017004152.1:c.347T>C	XP_016859641.1:p.Leu116Pro
XM_024452913.1:c.458T>C	XP_024308681.1:p.Leu153Pro
NM_002437.5:c.506T>C MANE Select	NP_002428.1:p.Leu169Pro