Canonical Allele Identifier: CA2658328544

Gene: MPV17

Linked Data

• gnomAD v4: 2-27323073-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323073C>A , CM000664.2:g.27323073C>A	GRCh38
NC_000002.11:g.27545940C>A , CM000664.1:g.27545940C>A	GRCh37
NC_000002.10:g.27399444C>A	NCBI36
NG_008075.1:g.4492G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.-27G>T MANE Select	ENSP00000369383.1:n.-27G>T
ENST00000357186.10:c.18+1360G>T	ENSP00000349713.6:n.18+1360G>T
ENST00000380044.5:c.-27G>T	ENSP00000369383.1:n.-27G>T
ENST00000399052.8:c.-27G>T	ENSP00000382006.4:n.-27G>T
ENST00000402722.5:c.-27G>T	ENSP00000386000.1:n.-27G>T
ENST00000405076.5:c.-27G>T	ENSP00000385175.1:n.-27G>T
ENST00000426513.6:c.-27G>T	ENSP00000403824.2:n.-27G>T
ENST00000486898.1:n.25G>T
ENST00000494436.1:n.5G>T
ENST00000621183.4:n.30G>T
ENST00000621470.4:n.25G>T
NM_002437.4:c.-27G>T	NP_002428.1:n.-27G>T
XM_005264327.2:c.-151G>T	XP_005264384.1:n.-151G>T
XM_006712021.2:c.-232G>T	XP_006712084.1:n.-232G>T
XM_006712021.3:c.-232G>T	XP_006712084.1:n.-232G>T
XM_017004150.1:c.-3279G>T	XP_016859639.1:n.-3279G>T
NM_002437.5:c.-27G>T MANE Select	NP_002428.1:n.-27G>T