Canonical Allele Identifier: CA1240215856

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309934G= , CM000664.2:g.27309934G=	GRCh38
NC_000002.11:g.27532802G= , CM000664.1:g.27532802G=	GRCh37
NC_000002.10:g.27386306G=	NCBI36
NG_008075.1:g.17630C=
NG_033055.1:g.3329C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.509C= MANE Select	ENSP00000369383.1:p.Ser170=
ENST00000233545.6:c.509C=	ENSP00000233545.2:p.Ser170=
ENST00000357186.10:c.341C=	ENSP00000349713.6:p.Ser114=
ENST00000380044.5:c.509C=	ENSP00000369383.1:p.Ser170=
ENST00000402310.5:c.456C=	ENSP00000383955.1:p.Val152=
ENST00000402722.5:c.*88C=	ENSP00000386000.1:n.*88C=
ENST00000405076.5:c.320C=	ENSP00000385175.1:p.Ser107=
ENST00000405983.5:c.554C=	ENSP00000384586.1:p.Ser185=
ENST00000415514.5:c.*310C=	ENSP00000388043.1:n.*310C=
ENST00000426513.6:c.*174C=	ENSP00000403824.2:n.*174C=
ENST00000430991.5:c.343C=
ENST00000620797.4:n.182C=
ENST00000621183.4:n.812C=
NM_002437.4:c.509C=	NP_002428.1:p.Ser170=
XM_005264326.2:c.509C=	XP_005264383.1:p.Ser170=
XM_005264327.2:c.350C=	XP_005264384.1:p.Ser117=
XM_006712021.2:c.461C=	XP_006712084.1:p.Ser154=
XM_005264326.4:c.509C=	XP_005264383.1:p.Ser170=
XM_006712021.3:c.461C=	XP_006712084.1:p.Ser154=
XM_017004150.1:c.491C=	XP_016859639.1:p.Ser164=
XM_017004151.1:c.461C=	XP_016859640.1:p.Ser154=
XM_017004152.1:c.350C=	XP_016859641.1:p.Ser117=
XM_024452913.1:c.461C=	XP_024308681.1:p.Ser154=
NM_002437.5:c.509C= MANE Select	NP_002428.1:p.Ser170=