Canonical Allele Identifier: CA2658328566

Gene: MPV17

Linked Data

• gnomAD v4: 2-27323094-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323094A>G , CM000664.2:g.27323094A>G	GRCh38
NC_000002.11:g.27545961A>G , CM000664.1:g.27545961A>G	GRCh37
NC_000002.10:g.27399465A>G	NCBI36
NG_008075.1:g.4471T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-48T>C MANE Select	ENSP00000369383.1:n.-48T>C
ENST00000357186.10:c.18+1339T>C	ENSP00000349713.6:n.18+1339T>C
ENST00000380044.5:c.-48T>C	ENSP00000369383.1:n.-48T>C
ENST00000399052.8:c.-48T>C	ENSP00000382006.4:n.-48T>C
ENST00000405076.5:c.-48T>C	ENSP00000385175.1:n.-48T>C
ENST00000486898.1:n.4T>C
ENST00000621183.4:n.9T>C
ENST00000621470.4:n.4T>C
NM_002437.4:c.-48T>C	NP_002428.1:n.-48T>C
XM_005264327.2:c.-172T>C	XP_005264384.1:n.-172T>C
XM_006712021.2:c.-253T>C	XP_006712084.1:n.-253T>C
XM_006712021.3:c.-253T>C	XP_006712084.1:n.-253T>C
XM_017004150.1:c.-3300T>C	XP_016859639.1:n.-3300T>C
NM_002437.5:c.-48T>C MANE Select	NP_002428.1:n.-48T>C