Canonical Allele Identifier: CA4643831

Gene: MTMR7 VPS37A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17302258G>A , CM000670.2:g.17302258G>A	GRCh38
NC_000008.10:g.17159767G>A , CM000670.1:g.17159767G>A	GRCh37
NC_000008.9:g.17204138G>A	NCBI36
NG_032996.2:g.60367G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004686.5:c.1516C>T (MTMR7) MANE Select	NP_004677.3:p.Arg506Cys
ENST00000180173.10:c.1516C>T (MTMR7) MANE Select	ENSP00000180173.4:p.Arg506Cys
NM_001363172.1:c.906+15831G>A (VPS37A)	NP_001350101.1:n.906+15831G>A
NM_001363172.2:c.906+15831G>A (VPS37A)	NP_001350101.1:n.906+15831G>A
NM_001363173.1:c.1194+15831G>A (VPS37A)	NP_001350102.1:n.1194+15831G>A
NM_001363173.2:c.1194+15831G>A (VPS37A)	NP_001350102.1:n.1194+15831G>A
NM_004686.4:c.1516C>T (MTMR7)	NP_004677.3:p.Arg506Cys
ENST00000180173.9:c.1516C>T (MTMR7)	ENSP00000180173.4:p.Arg506Cys
ENST00000519515.1:n.97G>A (VPS37A)
ENST00000519590.5:n.528C>T (MTMR7)
ENST00000521857.5:c.1516C>T (MTMR7)	ENSP00000429733.1:p.Arg506Cys
XM_006716414.2:c.805C>T (MTMR7)	XP_006716477.2:p.Arg269Cys
XM_006716414.3:c.805C>T (MTMR7)	XP_006716477.2:p.Arg269Cys
XM_011544691.1:c.1534C>T (MTMR7)	XP_011542993.1:p.Arg512Cys
XM_011544692.1:c.853C>T (MTMR7)	XP_011542994.1:p.Arg285Cys
XM_011544693.1:c.805C>T (MTMR7)	XP_011542995.1:p.Arg269Cys
XM_011544693.2:c.805C>T (MTMR7)	XP_011542995.1:p.Arg269Cys
XM_017013956.2:c.652C>T (MTMR7)	XP_016869445.1:p.Arg218Cys
XM_024447325.1:c.853C>T (MTMR7)	XP_024303093.1:p.Arg285Cys