Canonical Allele Identifier: CA1240221777

Gene: MPV17

Linked Data

• ClinVar Variation Id: 2077917
• ClinVar RCV Id: RCV002988368
• dbSNP Id: rs1679915448
• gnomAD v4: 2-27323066-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323066T>C , CM000664.2:g.27323066T>C	GRCh38
NC_000002.11:g.27545933T>C , CM000664.1:g.27545933T>C	GRCh37
NC_000002.10:g.27399437T>C	NCBI36
NG_008075.1:g.4499A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-20A>G MANE Select	ENSP00000369383.1:n.-20A>G
ENST00000357186.10:c.18+1367A>G	ENSP00000349713.6:n.18+1367A>G
ENST00000380044.5:c.-20A>G	ENSP00000369383.1:n.-20A>G
ENST00000399052.8:c.-20A>G	ENSP00000382006.4:n.-20A>G
ENST00000402722.5:c.-20A>G	ENSP00000386000.1:n.-20A>G
ENST00000403262.6:c.-20A>G	ENSP00000385671.1:n.-20A>G
ENST00000405076.5:c.-20A>G	ENSP00000385175.1:n.-20A>G
ENST00000426513.6:c.-20A>G	ENSP00000403824.2:n.-20A>G
ENST00000428910.5:c.-222A>G	ENSP00000405235.1:n.-222A>G
ENST00000486898.1:n.32A>G
ENST00000494436.1:n.12A>G
ENST00000617583.4:n.7A>G
ENST00000621183.4:n.37A>G
ENST00000621470.4:n.32A>G
NM_002437.4:c.-20A>G	NP_002428.1:n.-20A>G
XM_005264327.2:c.-144A>G	XP_005264384.1:n.-144A>G
XM_006712021.2:c.-225A>G	XP_006712084.1:n.-225A>G
XM_005264326.4:c.-82A>G	XP_005264383.1:n.-82A>G
XM_006712021.3:c.-225A>G	XP_006712084.1:n.-225A>G
XM_017004150.1:c.-3272A>G	XP_016859639.1:n.-3272A>G
NM_002437.5:c.-20A>G MANE Select	NP_002428.1:n.-20A>G