Canonical Allele Identifier: CA346209223

Gene: MPV17

Linked Data

• dbSNP Id: rs1318291403
• gnomAD v2: 2-27535886-A-G
• gnomAD v3: 2-27313019-A-G
• gnomAD v4: 2-27313019-A-G
• MyVariant Identifiers: chr2:g.27535886A>G (hg19) ; chr2:g.27313019A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313019A>G , CM000664.2:g.27313019A>G	GRCh38
NC_000002.11:g.27535886A>G , CM000664.1:g.27535886A>G	GRCh37
NC_000002.10:g.27389390A>G	NCBI36
NG_008075.1:g.14546T>C
NG_033055.1:g.245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.161T>C MANE Select	ENSP00000369383.1:p.Met54Thr
ENST00000233545.6:c.161T>C	ENSP00000233545.2:p.Met54Thr
ENST00000357186.10:c.19-247T>C	ENSP00000349713.6:n.19-247T>C
ENST00000380044.5:c.161T>C	ENSP00000369383.1:p.Met54Thr
ENST00000402310.5:c.161T>C	ENSP00000383955.1:p.Met54Thr
ENST00000402722.5:c.126T>C	ENSP00000386000.1:p.His42=
ENST00000403262.6:c.161T>C	ENSP00000385671.1:p.Met54Thr
ENST00000405076.5:c.161T>C	ENSP00000385175.1:p.Met54Thr
ENST00000405983.5:c.206T>C	ENSP00000384586.1:p.Met69Thr
ENST00000415514.5:c.228-247T>C	ENSP00000388043.1:n.228-247T>C
ENST00000426513.6:c.126T>C	ENSP00000403824.2:p.His42=
ENST00000428910.5:c.83T>C	ENSP00000405235.1:p.Met28Thr
ENST00000430991.5:c.91T>C
ENST00000616446.1:n.138T>C
ENST00000616707.1:n.369T>C
ENST00000617583.4:n.187T>C
ENST00000621183.4:n.217T>C
ENST00000621470.4:n.177T>C
ENST00000622003.4:n.334T>C
NM_002437.4:c.161T>C	NP_002428.1:p.Met54Thr
XM_005264326.2:c.161T>C	XP_005264383.1:p.Met54Thr
XM_005264327.2:c.2T>C	XP_005264384.1:p.Met1Thr
XM_006712021.2:c.113T>C	XP_006712084.1:p.Met38Thr
XM_005264326.4:c.161T>C	XP_005264383.1:p.Met54Thr
XM_006712021.3:c.113T>C	XP_006712084.1:p.Met38Thr
XM_017004150.1:c.143T>C	XP_016859639.1:p.Met48Thr
XM_017004151.1:c.113T>C	XP_016859640.1:p.Met38Thr
XM_017004152.1:c.2T>C	XP_016859641.1:p.Met1Thr
XM_024452913.1:c.113T>C	XP_024308681.1:p.Met38Thr
NM_002437.5:c.161T>C MANE Select	NP_002428.1:p.Met54Thr