Canonical Allele Identifier: CA2658328568

Gene: MPV17

Linked Data

• gnomAD v4: 2-27323095-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323095A>G , CM000664.2:g.27323095A>G	GRCh38
NC_000002.11:g.27545962A>G , CM000664.1:g.27545962A>G	GRCh37
NC_000002.10:g.27399466A>G	NCBI36
NG_008075.1:g.4470T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-49T>C MANE Select	ENSP00000369383.1:n.-49T>C
ENST00000357186.10:c.18+1338T>C	ENSP00000349713.6:n.18+1338T>C
ENST00000380044.5:c.-49T>C	ENSP00000369383.1:n.-49T>C
ENST00000399052.8:c.-49T>C	ENSP00000382006.4:n.-49T>C
ENST00000405076.5:c.-49T>C	ENSP00000385175.1:n.-49T>C
ENST00000486898.1:n.3T>C
ENST00000621183.4:n.8T>C
ENST00000621470.4:n.3T>C
NM_002437.4:c.-49T>C	NP_002428.1:n.-49T>C
XM_005264327.2:c.-173T>C	XP_005264384.1:n.-173T>C
XM_006712021.2:c.-254T>C	XP_006712084.1:n.-254T>C
XM_006712021.3:c.-254T>C	XP_006712084.1:n.-254T>C
XM_017004150.1:c.-3301T>C	XP_016859639.1:n.-3301T>C
NM_002437.5:c.-49T>C MANE Select	NP_002428.1:n.-49T>C