Canonical Allele Identifier: CA346207778

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535368A>G (hg19) ; chr2:g.27312501A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312501A>G , CM000664.2:g.27312501A>G	GRCh38
NC_000002.11:g.27535368A>G , CM000664.1:g.27535368A>G	GRCh37
NC_000002.10:g.27388872A>G	NCBI36
NG_008075.1:g.15064T>C
NG_033055.1:g.763T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.368T>C MANE Select	ENSP00000369383.1:p.Leu123Pro
ENST00000233545.6:c.368T>C	ENSP00000233545.2:p.Leu123Pro
ENST00000357186.10:c.200T>C	ENSP00000349713.6:p.Leu67Pro
ENST00000380044.5:c.368T>C	ENSP00000369383.1:p.Leu123Pro
ENST00000402310.5:c.368T>C	ENSP00000383955.1:p.Leu123Pro
ENST00000402722.5:c.*33T>C	ENSP00000386000.1:n.*33T>C
ENST00000403262.6:c.368T>C	ENSP00000385671.1:p.Leu123Pro
ENST00000405076.5:c.187-255T>C	ENSP00000385175.1:n.187-255T>C
ENST00000405983.5:c.413T>C	ENSP00000384586.1:p.Leu138Pro
ENST00000415514.5:c.*169T>C	ENSP00000388043.1:n.*169T>C
ENST00000426513.6:c.*33T>C	ENSP00000403824.2:n.*33T>C
ENST00000428910.5:c.290T>C	ENSP00000405235.1:p.Leu97Pro
ENST00000430991.5:c.209+179T>C
ENST00000475085.1:n.396T>C
ENST00000616446.1:n.345T>C
ENST00000616707.1:n.887T>C
ENST00000617583.4:n.394T>C
ENST00000621183.4:n.424T>C
ENST00000621470.4:n.384T>C
ENST00000622003.4:n.541T>C
NM_002437.4:c.368T>C	NP_002428.1:p.Leu123Pro
XM_005264326.2:c.368T>C	XP_005264383.1:p.Leu123Pro
XM_005264327.2:c.209T>C	XP_005264384.1:p.Leu70Pro
XM_006712021.2:c.320T>C	XP_006712084.1:p.Leu107Pro
XM_005264326.4:c.368T>C	XP_005264383.1:p.Leu123Pro
XM_006712021.3:c.320T>C	XP_006712084.1:p.Leu107Pro
XM_017004150.1:c.350T>C	XP_016859639.1:p.Leu117Pro
XM_017004151.1:c.320T>C	XP_016859640.1:p.Leu107Pro
XM_017004152.1:c.209T>C	XP_016859641.1:p.Leu70Pro
XM_024452913.1:c.320T>C	XP_024308681.1:p.Leu107Pro
NM_002437.5:c.368T>C MANE Select	NP_002428.1:p.Leu123Pro