Canonical Allele Identifier: CA346205457

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532832C>A (hg19) ; chr2:g.27309964C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309964C>A , CM000664.2:g.27309964C>A	GRCh38
NC_000002.11:g.27532832C>A , CM000664.1:g.27532832C>A	GRCh37
NC_000002.10:g.27386336C>A	NCBI36
NG_008075.1:g.17600G>T
NG_033055.1:g.3299G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.479G>T MANE Select	ENSP00000369383.1:p.Cys160Phe
ENST00000233545.6:c.479G>T	ENSP00000233545.2:p.Cys160Phe
ENST00000357186.10:c.311G>T	ENSP00000349713.6:p.Cys104Phe
ENST00000380044.5:c.479G>T	ENSP00000369383.1:p.Cys160Phe
ENST00000402310.5:c.426G>T	ENSP00000383955.1:p.Met142Ile
ENST00000402722.5:c.*58G>T	ENSP00000386000.1:n.*58G>T
ENST00000405076.5:c.290G>T	ENSP00000385175.1:p.Cys97Phe
ENST00000405983.5:c.524G>T	ENSP00000384586.1:p.Cys175Phe
ENST00000415514.5:c.*280G>T	ENSP00000388043.1:n.*280G>T
ENST00000426513.6:c.*144G>T	ENSP00000403824.2:n.*144G>T
ENST00000430991.5:c.313G>T
ENST00000620797.4:n.152G>T
ENST00000621183.4:n.782G>T
NM_002437.4:c.479G>T	NP_002428.1:p.Cys160Phe
XM_005264326.2:c.479G>T	XP_005264383.1:p.Cys160Phe
XM_005264327.2:c.320G>T	XP_005264384.1:p.Cys107Phe
XM_006712021.2:c.431G>T	XP_006712084.1:p.Cys144Phe
XM_005264326.4:c.479G>T	XP_005264383.1:p.Cys160Phe
XM_006712021.3:c.431G>T	XP_006712084.1:p.Cys144Phe
XM_017004150.1:c.461G>T	XP_016859639.1:p.Cys154Phe
XM_017004151.1:c.431G>T	XP_016859640.1:p.Cys144Phe
XM_017004152.1:c.320G>T	XP_016859641.1:p.Cys107Phe
XM_024452913.1:c.431G>T	XP_024308681.1:p.Cys144Phe
NM_002437.5:c.479G>T MANE Select	NP_002428.1:p.Cys160Phe