Canonical Allele Identifier: CA1240215925

Gene: MPV17

Linked Data

• dbSNP Id: rs1679372407

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27310083_27310091dup , CM000664.2:g.27310083_27310091dup	GRCh38
NC_000002.11:g.27532951_27532959dup , CM000664.1:g.27532951_27532959dup	GRCh37
NC_000002.10:g.27386455_27386463dup	NCBI36
NG_008075.1:g.17476_17484dup
NG_033055.1:g.3175_3183dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.462-107_462-99dup MANE Select	ENSP00000369383.1:n.462-107_462-99dup
ENST00000233545.6:c.462-107_462-99dup	ENSP00000233545.2:n.462-107_462-99dup
ENST00000357186.10:c.294-107_294-99dup	ENSP00000349713.6:n.294-107_294-99dup
ENST00000380044.5:c.462-107_462-99dup	ENSP00000369383.1:n.462-107_462-99dup
ENST00000402310.5:c.409-107_409-99dup	ENSP00000383955.1:n.409-107_409-99dup
ENST00000402722.5:c.*41-107_*41-99dup	ENSP00000386000.1:n.*41-107_*41-99dup
ENST00000405076.5:c.273-107_273-99dup	ENSP00000385175.1:n.273-107_273-99dup
ENST00000405983.5:c.507-107_507-99dup	ENSP00000384586.1:n.507-107_507-99dup
ENST00000415514.5:c.*263-107_*263-99dup	ENSP00000388043.1:n.*263-107_*263-99dup
ENST00000426513.6:c.*127-107_*127-99dup	ENSP00000403824.2:n.*127-107_*127-99dup
ENST00000430991.5:c.296-107_296-99dup
ENST00000620797.4:n.135-107_135-99dup
ENST00000621183.4:n.765-107_765-99dup
NM_002437.4:c.462-107_462-99dup	NP_002428.1:n.462-107_462-99dup
XM_005264326.2:c.462-107_462-99dup	XP_005264383.1:n.462-107_462-99dup
XM_005264327.2:c.303-107_303-99dup	XP_005264384.1:n.303-107_303-99dup
XM_006712021.2:c.414-107_414-99dup	XP_006712084.1:n.414-107_414-99dup
XM_005264326.4:c.462-107_462-99dup	XP_005264383.1:n.462-107_462-99dup
XM_006712021.3:c.414-107_414-99dup	XP_006712084.1:n.414-107_414-99dup
XM_017004150.1:c.444-107_444-99dup	XP_016859639.1:n.444-107_444-99dup
XM_017004151.1:c.414-107_414-99dup	XP_016859640.1:n.414-107_414-99dup
XM_017004152.1:c.303-107_303-99dup	XP_016859641.1:n.303-107_303-99dup
XM_024452913.1:c.414-107_414-99dup	XP_024308681.1:n.414-107_414-99dup
NM_002437.5:c.462-107_462-99dup MANE Select	NP_002428.1:n.462-107_462-99dup