Canonical Allele Identifier: CA346205404

Gene: MPV17

Linked Data

• dbSNP Id: rs1380853975
• gnomAD v2: 2-27532819-G-C
• gnomAD v4: 2-27309951-G-C
• MyVariant Identifiers: chr2:g.27532819G>C (hg19) ; chr2:g.27309951G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309951G>C , CM000664.2:g.27309951G>C	GRCh38
NC_000002.11:g.27532819G>C , CM000664.1:g.27532819G>C	GRCh37
NC_000002.10:g.27386323G>C	NCBI36
NG_008075.1:g.17613C>G
NG_033055.1:g.3312C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.492C>G MANE Select	ENSP00000369383.1:p.Ile164Met
ENST00000233545.6:c.492C>G	ENSP00000233545.2:p.Ile164Met
ENST00000357186.10:c.324C>G	ENSP00000349713.6:p.Ile108Met
ENST00000380044.5:c.492C>G	ENSP00000369383.1:p.Ile164Met
ENST00000402310.5:c.439C>G	ENSP00000383955.1:p.Leu147Val
ENST00000402722.5:c.*71C>G	ENSP00000386000.1:n.*71C>G
ENST00000405076.5:c.303C>G	ENSP00000385175.1:p.Ile101Met
ENST00000405983.5:c.537C>G	ENSP00000384586.1:p.Ile179Met
ENST00000415514.5:c.*293C>G	ENSP00000388043.1:n.*293C>G
ENST00000426513.6:c.*157C>G	ENSP00000403824.2:n.*157C>G
ENST00000430991.5:c.326C>G
ENST00000620797.4:n.165C>G
ENST00000621183.4:n.795C>G
NM_002437.4:c.492C>G	NP_002428.1:p.Ile164Met
XM_005264326.2:c.492C>G	XP_005264383.1:p.Ile164Met
XM_005264327.2:c.333C>G	XP_005264384.1:p.Ile111Met
XM_006712021.2:c.444C>G	XP_006712084.1:p.Ile148Met
XM_005264326.4:c.492C>G	XP_005264383.1:p.Ile164Met
XM_006712021.3:c.444C>G	XP_006712084.1:p.Ile148Met
XM_017004150.1:c.474C>G	XP_016859639.1:p.Ile158Met
XM_017004151.1:c.444C>G	XP_016859640.1:p.Ile148Met
XM_017004152.1:c.333C>G	XP_016859641.1:p.Ile111Met
XM_024452913.1:c.444C>G	XP_024308681.1:p.Ile148Met
NM_002437.5:c.492C>G MANE Select	NP_002428.1:p.Ile164Met