Canonical Allele Identifier: CA2658326299

Gene: MPV17

Linked Data

• gnomAD v4: 2-27312775-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312775G>C , CM000664.2:g.27312775G>C	GRCh38
NC_000002.11:g.27535642G>C , CM000664.1:g.27535642G>C	GRCh37
NC_000002.10:g.27389146G>C	NCBI36
NG_008075.1:g.14790C>G
NG_033055.1:g.489C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.187-3C>G MANE Select	ENSP00000369383.1:n.187-3C>G
ENST00000233545.6:c.187-3C>G	ENSP00000233545.2:n.187-3C>G
ENST00000357186.10:c.19-3C>G	ENSP00000349713.6:n.19-3C>G
ENST00000380044.5:c.187-3C>G	ENSP00000369383.1:n.187-3C>G
ENST00000402310.5:c.187-3C>G	ENSP00000383955.1:n.187-3C>G
ENST00000402722.5:c.152-3C>G	ENSP00000386000.1:n.152-3C>G
ENST00000403262.6:c.187-3C>G	ENSP00000385671.1:n.187-3C>G
ENST00000405076.5:c.186+219C>G	ENSP00000385175.1:n.186+219C>G
ENST00000405983.5:c.232-3C>G	ENSP00000384586.1:n.232-3C>G
ENST00000415514.5:c.228-3C>G	ENSP00000388043.1:n.228-3C>G
ENST00000426513.6:c.152-3C>G	ENSP00000403824.2:n.152-3C>G
ENST00000428910.5:c.109-3C>G	ENSP00000405235.1:n.109-3C>G
ENST00000430991.5:c.117-3C>G
ENST00000475085.1:n.212C>G
ENST00000616446.1:n.164-3C>G
ENST00000616707.1:n.613C>G
ENST00000617583.4:n.213-3C>G
ENST00000621183.4:n.243-3C>G
ENST00000621470.4:n.203-3C>G
ENST00000622003.4:n.360-3C>G
NM_002437.4:c.187-3C>G	NP_002428.1:n.187-3C>G
XM_005264326.2:c.187-3C>G	XP_005264383.1:n.187-3C>G
XM_005264327.2:c.28-3C>G	XP_005264384.1:n.28-3C>G
XM_006712021.2:c.139-3C>G	XP_006712084.1:n.139-3C>G
XM_005264326.4:c.187-3C>G	XP_005264383.1:n.187-3C>G
XM_006712021.3:c.139-3C>G	XP_006712084.1:n.139-3C>G
XM_017004150.1:c.169-3C>G	XP_016859639.1:n.169-3C>G
XM_017004151.1:c.139-3C>G	XP_016859640.1:n.139-3C>G
XM_017004152.1:c.28-3C>G	XP_016859641.1:n.28-3C>G
XM_024452913.1:c.139-3C>G	XP_024308681.1:n.139-3C>G
NM_002437.5:c.187-3C>G MANE Select	NP_002428.1:n.187-3C>G