Canonical Allele Identifier: CA346205445

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532830C>G (hg19) ; chr2:g.27309962C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309962C>G , CM000664.2:g.27309962C>G	GRCh38
NC_000002.11:g.27532830C>G , CM000664.1:g.27532830C>G	GRCh37
NC_000002.10:g.27386334C>G	NCBI36
NG_008075.1:g.17602G>C
NG_033055.1:g.3301G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.481G>C MANE Select	ENSP00000369383.1:p.Val161Leu
ENST00000233545.6:c.481G>C	ENSP00000233545.2:p.Val161Leu
ENST00000357186.10:c.313G>C	ENSP00000349713.6:p.Val105Leu
ENST00000380044.5:c.481G>C	ENSP00000369383.1:p.Val161Leu
ENST00000402310.5:c.428G>C	ENSP00000383955.1:p.Cys143Ser
ENST00000402722.5:c.*60G>C	ENSP00000386000.1:n.*60G>C
ENST00000405076.5:c.292G>C	ENSP00000385175.1:p.Val98Leu
ENST00000405983.5:c.526G>C	ENSP00000384586.1:p.Val176Leu
ENST00000415514.5:c.*282G>C	ENSP00000388043.1:n.*282G>C
ENST00000426513.6:c.*146G>C	ENSP00000403824.2:n.*146G>C
ENST00000430991.5:c.315G>C
ENST00000620797.4:n.154G>C
ENST00000621183.4:n.784G>C
NM_002437.4:c.481G>C	NP_002428.1:p.Val161Leu
XM_005264326.2:c.481G>C	XP_005264383.1:p.Val161Leu
XM_005264327.2:c.322G>C	XP_005264384.1:p.Val108Leu
XM_006712021.2:c.433G>C	XP_006712084.1:p.Val145Leu
XM_005264326.4:c.481G>C	XP_005264383.1:p.Val161Leu
XM_006712021.3:c.433G>C	XP_006712084.1:p.Val145Leu
XM_017004150.1:c.463G>C	XP_016859639.1:p.Val155Leu
XM_017004151.1:c.433G>C	XP_016859640.1:p.Val145Leu
XM_017004152.1:c.322G>C	XP_016859641.1:p.Val108Leu
XM_024452913.1:c.433G>C	XP_024308681.1:p.Val145Leu
NM_002437.5:c.481G>C MANE Select	NP_002428.1:p.Val161Leu