Canonical Allele Identifier: CA1240221721

Gene: MPV17

Linked Data

• dbSNP Id: rs1572555759
• gnomAD v4: 2-27322975-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322975A>G , CM000664.2:g.27322975A>G	GRCh38
NC_000002.11:g.27545842A>G , CM000664.1:g.27545842A>G	GRCh37
NC_000002.10:g.27399346A>G	NCBI36
NG_008075.1:g.4590T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.-6+77T>C MANE Select	ENSP00000369383.1:n.-6+77T>C
ENST00000357186.10:c.18+1458T>C	ENSP00000349713.6:n.18+1458T>C
ENST00000380044.5:c.-6+77T>C	ENSP00000369383.1:n.-6+77T>C
ENST00000399052.8:c.-6+77T>C	ENSP00000382006.4:n.-6+77T>C
ENST00000402310.5:c.-6+77T>C	ENSP00000383955.1:n.-6+77T>C
ENST00000402722.5:c.-6+77T>C	ENSP00000386000.1:n.-6+77T>C
ENST00000403262.6:c.-6+77T>C	ENSP00000385671.1:n.-6+77T>C
ENST00000405076.5:c.-6+77T>C	ENSP00000385175.1:n.-6+77T>C
ENST00000405983.5:c.-6+77T>C	ENSP00000384586.1:n.-6+77T>C
ENST00000415514.5:c.-6+77T>C	ENSP00000388043.1:n.-6+77T>C
ENST00000426513.6:c.-6+77T>C	ENSP00000403824.2:n.-6+77T>C
ENST00000428910.5:c.-208+77T>C	ENSP00000405235.1:n.-208+77T>C
ENST00000486898.1:n.46+77T>C
ENST00000494436.1:n.26+77T>C
ENST00000617583.4:n.21+77T>C
ENST00000621183.4:n.51+77T>C
ENST00000621470.4:n.46+77T>C
ENST00000622003.4:n.11+77T>C
NM_002437.4:c.-6+77T>C	NP_002428.1:n.-6+77T>C
XM_005264326.2:c.-6+15T>C	XP_005264383.1:n.-6+15T>C
XM_005264327.2:c.-130+77T>C	XP_005264384.1:n.-130+77T>C
XM_006712021.2:c.-211+77T>C	XP_006712084.1:n.-211+77T>C
XM_005264326.4:c.-6+15T>C	XP_005264383.1:n.-6+15T>C
XM_006712021.3:c.-211+77T>C	XP_006712084.1:n.-211+77T>C
XM_017004150.1:c.-3258+77T>C	XP_016859639.1:n.-3258+77T>C
XM_024452913.1:c.-211+15T>C	XP_024308681.1:n.-211+15T>C
NM_002437.5:c.-6+77T>C MANE Select	NP_002428.1:n.-6+77T>C