Canonical Allele Identifier: CA370406081

Gene: MTMR7 VPS37A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17299879C>A , CM000670.2:g.17299879C>A	GRCh38
NC_000008.10:g.17157388C>A , CM000670.1:g.17157388C>A	GRCh37
NC_000008.9:g.17201759C>A	NCBI36
NG_032996.1:g.57988C>A
NG_032996.2:g.57988C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004686.5:c.1966G>T (MTMR7) MANE Select	NP_004677.3:p.Val656Leu
ENST00000180173.10:c.1966G>T (MTMR7) MANE Select	ENSP00000180173.4:p.Val656Leu
NM_001363172.1:c.906+13452C>A (VPS37A)	NP_001350101.1:n.906+13452C>A
NM_001363172.2:c.906+13452C>A (VPS37A)	NP_001350101.1:n.906+13452C>A
NM_001363173.1:c.1194+13452C>A (VPS37A)	NP_001350102.1:n.1194+13452C>A
NM_001363173.2:c.1194+13452C>A (VPS37A)	NP_001350102.1:n.1194+13452C>A
NM_004686.4:c.1966G>T (MTMR7)	NP_004677.3:p.Val656Leu
ENST00000180173.9:c.1966G>T (MTMR7)	ENSP00000180173.4:p.Val656Leu
ENST00000519515.1:n.52+1721C>A (VPS37A)
ENST00000520997.1:n.224C>A (VPS37A)
ENST00000521162.5:n.566C>A (VPS37A)
XM_006716414.2:c.1255G>T (MTMR7)	XP_006716477.2:p.Val419Leu
XM_006716414.3:c.1255G>T (MTMR7)	XP_006716477.2:p.Val419Leu
XM_011544691.1:c.1984G>T (MTMR7)	XP_011542993.1:p.Val662Leu
XM_011544692.1:c.1303G>T (MTMR7)	XP_011542994.1:p.Val435Leu
XM_011544693.1:c.1255G>T (MTMR7)	XP_011542995.1:p.Val419Leu
XM_011544693.2:c.1255G>T (MTMR7)	XP_011542995.1:p.Val419Leu
XM_017013021.2:c.*1813C>A (VPS37A)	XP_016868510.1:n.*1813C>A
XM_017013956.2:c.1102G>T (MTMR7)	XP_016869445.1:p.Val368Leu
XM_024447325.1:c.1303G>T (MTMR7)	XP_024303093.1:p.Val435Leu