Canonical Allele Identifier: CA346207136

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27534785A>G (hg19) ; chr2:g.27311917A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311917A>G , CM000664.2:g.27311917A>G	GRCh38
NC_000002.11:g.27534785A>G , CM000664.1:g.27534785A>G	GRCh37
NC_000002.10:g.27388289A>G	NCBI36
NG_008075.1:g.15647T>C
NG_033055.1:g.1346T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.443T>C MANE Select	ENSP00000369383.1:p.Leu148Pro
ENST00000233545.6:c.443T>C	ENSP00000233545.2:p.Leu148Pro
ENST00000357186.10:c.275T>C	ENSP00000349713.6:p.Leu92Pro
ENST00000380044.5:c.443T>C	ENSP00000369383.1:p.Leu148Pro
ENST00000402310.5:c.408+297T>C	ENSP00000383955.1:n.408+297T>C
ENST00000402722.5:c.*40+577T>C	ENSP00000386000.1:n.*40+577T>C
ENST00000403262.6:c.443T>C	ENSP00000385671.1:p.Leu148Pro
ENST00000405076.5:c.254T>C	ENSP00000385175.1:p.Leu85Pro
ENST00000405983.5:c.488T>C	ENSP00000384586.1:p.Leu163Pro
ENST00000415514.5:c.*244T>C	ENSP00000388043.1:n.*244T>C
ENST00000426513.6:c.*108T>C	ENSP00000403824.2:n.*108T>C
ENST00000430991.5:c.277T>C
ENST00000616707.1:n.1471T>C
ENST00000620797.4:n.116T>C
ENST00000621183.4:n.746T>C
NM_002437.4:c.443T>C	NP_002428.1:p.Leu148Pro
XM_005264326.2:c.443T>C	XP_005264383.1:p.Leu148Pro
XM_005264327.2:c.284T>C	XP_005264384.1:p.Leu95Pro
XM_006712021.2:c.395T>C	XP_006712084.1:p.Leu132Pro
XM_005264326.4:c.443T>C	XP_005264383.1:p.Leu148Pro
XM_006712021.3:c.395T>C	XP_006712084.1:p.Leu132Pro
XM_017004150.1:c.425T>C	XP_016859639.1:p.Leu142Pro
XM_017004151.1:c.395T>C	XP_016859640.1:p.Leu132Pro
XM_017004152.1:c.284T>C	XP_016859641.1:p.Leu95Pro
XM_024452913.1:c.395T>C	XP_024308681.1:p.Leu132Pro
NM_002437.5:c.443T>C MANE Select	NP_002428.1:p.Leu148Pro