Canonical Allele Identifier: CA346205385

Gene: MPV17

Linked Data

• dbSNP Id: rs1679365927
• MyVariant Identifiers: chr2:g.27532812A>G (hg19) ; chr2:g.27309944A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309944A>G , CM000664.2:g.27309944A>G	GRCh38
NC_000002.11:g.27532812A>G , CM000664.1:g.27532812A>G	GRCh37
NC_000002.10:g.27386316A>G	NCBI36
NG_008075.1:g.17620T>C
NG_033055.1:g.3319T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.499T>C MANE Select	ENSP00000369383.1:p.Ser167Pro
ENST00000233545.6:c.499T>C	ENSP00000233545.2:p.Ser167Pro
ENST00000357186.10:c.331T>C	ENSP00000349713.6:p.Ser111Pro
ENST00000380044.5:c.499T>C	ENSP00000369383.1:p.Ser167Pro
ENST00000402310.5:c.446T>C	ENSP00000383955.1:p.Leu149Pro
ENST00000402722.5:c.*78T>C	ENSP00000386000.1:n.*78T>C
ENST00000405076.5:c.310T>C	ENSP00000385175.1:p.Ser104Pro
ENST00000405983.5:c.544T>C	ENSP00000384586.1:p.Ser182Pro
ENST00000415514.5:c.*300T>C	ENSP00000388043.1:n.*300T>C
ENST00000426513.6:c.*164T>C	ENSP00000403824.2:n.*164T>C
ENST00000430991.5:c.333T>C
ENST00000620797.4:n.172T>C
ENST00000621183.4:n.802T>C
NM_002437.4:c.499T>C	NP_002428.1:p.Ser167Pro
XM_005264326.2:c.499T>C	XP_005264383.1:p.Ser167Pro
XM_005264327.2:c.340T>C	XP_005264384.1:p.Ser114Pro
XM_006712021.2:c.451T>C	XP_006712084.1:p.Ser151Pro
XM_005264326.4:c.499T>C	XP_005264383.1:p.Ser167Pro
XM_006712021.3:c.451T>C	XP_006712084.1:p.Ser151Pro
XM_017004150.1:c.481T>C	XP_016859639.1:p.Ser161Pro
XM_017004151.1:c.451T>C	XP_016859640.1:p.Ser151Pro
XM_017004152.1:c.340T>C	XP_016859641.1:p.Ser114Pro
XM_024452913.1:c.451T>C	XP_024308681.1:p.Ser151Pro
NM_002437.5:c.499T>C MANE Select	NP_002428.1:p.Ser167Pro