Canonical Allele Identifier: CA346205353

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532799C>T (hg19) ; chr2:g.27309931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309931C>T , CM000664.2:g.27309931C>T	GRCh38
NC_000002.11:g.27532799C>T , CM000664.1:g.27532799C>T	GRCh37
NC_000002.10:g.27386303C>T	NCBI36
NG_008075.1:g.17633G>A
NG_033055.1:g.3332G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.512G>A MANE Select	ENSP00000369383.1:p.Trp171Ter
ENST00000233545.6:c.512G>A	ENSP00000233545.2:p.Trp171Ter
ENST00000357186.10:c.344G>A	ENSP00000349713.6:p.Trp115Ter
ENST00000380044.5:c.512G>A	ENSP00000369383.1:p.Trp171Ter
ENST00000402310.5:c.459G>A	ENSP00000383955.1:p.Leu153=
ENST00000402722.5:c.*91G>A	ENSP00000386000.1:n.*91G>A
ENST00000405076.5:c.323G>A	ENSP00000385175.1:p.Trp108Ter
ENST00000405983.5:c.557G>A	ENSP00000384586.1:p.Trp186Ter
ENST00000415514.5:c.*313G>A	ENSP00000388043.1:n.*313G>A
ENST00000426513.6:c.*177G>A	ENSP00000403824.2:n.*177G>A
ENST00000430991.5:c.346G>A
ENST00000620797.4:n.185G>A
ENST00000621183.4:n.815G>A
NM_002437.4:c.512G>A	NP_002428.1:p.Trp171Ter
XM_005264326.2:c.512G>A	XP_005264383.1:p.Trp171Ter
XM_005264327.2:c.353G>A	XP_005264384.1:p.Trp118Ter
XM_006712021.2:c.464G>A	XP_006712084.1:p.Trp155Ter
XM_005264326.4:c.512G>A	XP_005264383.1:p.Trp171Ter
XM_006712021.3:c.464G>A	XP_006712084.1:p.Trp155Ter
XM_017004150.1:c.494G>A	XP_016859639.1:p.Trp165Ter
XM_017004151.1:c.464G>A	XP_016859640.1:p.Trp155Ter
XM_017004152.1:c.353G>A	XP_016859641.1:p.Trp118Ter
XM_024452913.1:c.464G>A	XP_024308681.1:p.Trp155Ter
NM_002437.5:c.512G>A MANE Select	NP_002428.1:p.Trp171Ter