Canonical Allele Identifier: CA1575513

Gene: MPV17

Linked Data

• dbSNP Id: rs773274752
• ExAC: 2:27534794 T / G
• gnomAD v2: 2-27534794-T-G
• gnomAD v4: 2-27311926-T-G
• MyVariant Identifiers: chr2:g.27534794T>G (hg19) ; chr2:g.27311926T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311926T>G , CM000664.2:g.27311926T>G	GRCh38
NC_000002.11:g.27534794T>G , CM000664.1:g.27534794T>G	GRCh37
NC_000002.10:g.27388298T>G	NCBI36
NG_008075.1:g.15638A>C
NG_033055.1:g.1337A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.434A>C MANE Select	ENSP00000369383.1:p.Asn145Thr
ENST00000233545.6:c.434A>C	ENSP00000233545.2:p.Asn145Thr
ENST00000357186.10:c.266A>C	ENSP00000349713.6:p.Asn89Thr
ENST00000380044.5:c.434A>C	ENSP00000369383.1:p.Asn145Thr
ENST00000402310.5:c.408+288A>C	ENSP00000383955.1:n.408+288A>C
ENST00000402722.5:c.*40+568A>C	ENSP00000386000.1:n.*40+568A>C
ENST00000403262.6:c.434A>C	ENSP00000385671.1:p.Asn145Thr
ENST00000405076.5:c.245A>C	ENSP00000385175.1:p.Asn82Thr
ENST00000405983.5:c.479A>C	ENSP00000384586.1:p.Asn160Thr
ENST00000415514.5:c.*235A>C	ENSP00000388043.1:n.*235A>C
ENST00000426513.6:c.*99A>C	ENSP00000403824.2:n.*99A>C
ENST00000430991.5:c.268A>C
ENST00000616707.1:n.1462A>C
ENST00000620797.4:n.107A>C
ENST00000621183.4:n.737A>C
NM_002437.4:c.434A>C	NP_002428.1:p.Asn145Thr
XM_005264326.2:c.434A>C	XP_005264383.1:p.Asn145Thr
XM_005264327.2:c.275A>C	XP_005264384.1:p.Asn92Thr
XM_006712021.2:c.386A>C	XP_006712084.1:p.Asn129Thr
XM_005264326.4:c.434A>C	XP_005264383.1:p.Asn145Thr
XM_006712021.3:c.386A>C	XP_006712084.1:p.Asn129Thr
XM_017004150.1:c.416A>C	XP_016859639.1:p.Asn139Thr
XM_017004151.1:c.386A>C	XP_016859640.1:p.Asn129Thr
XM_017004152.1:c.275A>C	XP_016859641.1:p.Asn92Thr
XM_024452913.1:c.386A>C	XP_024308681.1:p.Asn129Thr
NM_002437.5:c.434A>C MANE Select	NP_002428.1:p.Asn145Thr