Canonical Allele Identifier: CA44515731

Gene: MPV17

Linked Data

• dbSNP Id: rs1049801
• MyVariant Identifiers: chr2:g.27532422C>T (hg19) ; chr2:g.27309554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309554C>T , CM000664.2:g.27309554C>T	GRCh38
NC_000002.11:g.27532422C>T , CM000664.1:g.27532422C>T	GRCh37
NC_000002.10:g.27385926C>T	NCBI36
NG_008075.1:g.18010G>A
NG_033055.1:g.3709G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.*358G>A MANE Select	ENSP00000369383.1:n.*358G>A
ENST00000233545.6:c.*358G>A	ENSP00000233545.2:n.*358G>A
ENST00000357186.10:c.*358G>A	ENSP00000349713.6:n.*358G>A
ENST00000380044.5:c.*358G>A	ENSP00000369383.1:n.*358G>A
ENST00000402310.5:c.*323G>A	ENSP00000383955.1:n.*323G>A
ENST00000402722.5:c.*468G>A	ENSP00000386000.1:n.*468G>A
ENST00000426513.6:c.*554G>A	ENSP00000403824.2:n.*554G>A
ENST00000620797.4:n.562G>A
NM_002437.4:c.*358G>A	NP_002428.1:n.*358G>A
XM_005264326.2:c.*358G>A	XP_005264383.1:n.*358G>A
XM_005264327.2:c.*358G>A	XP_005264384.1:n.*358G>A
XM_006712021.2:c.*358G>A	XP_006712084.1:n.*358G>A
XM_005264326.4:c.*358G>A	XP_005264383.1:n.*358G>A
XM_006712021.3:c.*358G>A	XP_006712084.1:n.*358G>A
XM_017004150.1:c.*358G>A	XP_016859639.1:n.*358G>A
XM_017004151.1:c.*358G>A	XP_016859640.1:n.*358G>A
XM_017004152.1:c.*358G>A	XP_016859641.1:n.*358G>A
XM_024452913.1:c.*358G>A	XP_024308681.1:n.*358G>A
NM_002437.5:c.*358G>A MANE Select	NP_002428.1:n.*358G>A