Canonical Allele Identifier: CA4644013

Gene: MTMR7 VPS37A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17311530C>T , CM000670.2:g.17311530C>T	GRCh38
NC_000008.10:g.17169039C>T , CM000670.1:g.17169039C>T	GRCh37
NC_000008.9:g.17213410C>T	NCBI36
NG_032996.2:g.69639C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004686.5:c.1082G>A (MTMR7) MANE Select	NP_004677.3:p.Arg361Gln
ENST00000180173.10:c.1082G>A (MTMR7) MANE Select	ENSP00000180173.4:p.Arg361Gln
NM_001363172.1:c.*1-18740C>T (VPS37A)	NP_001350101.1:n.*1-18740C>T
NM_001363172.2:c.*1-18740C>T (VPS37A)	NP_001350101.1:n.*1-18740C>T
NM_001363173.1:c.*1-18740C>T (VPS37A)	NP_001350102.1:n.*1-18740C>T
NM_001363173.2:c.*1-18740C>T (VPS37A)	NP_001350102.1:n.*1-18740C>T
NM_004686.4:c.1082G>A (MTMR7)	NP_004677.3:p.Arg361Gln
ENST00000180173.9:c.1082G>A (MTMR7)	ENSP00000180173.4:p.Arg361Gln
ENST00000519590.5:n.144G>A (MTMR7)
ENST00000519763.1:n.218G>A (MTMR7)
ENST00000521857.5:c.1082G>A (MTMR7)	ENSP00000429733.1:p.Arg361Gln
XM_006716414.2:c.371G>A (MTMR7)	XP_006716477.2:p.Arg124Gln
XM_006716414.3:c.371G>A (MTMR7)	XP_006716477.2:p.Arg124Gln
XM_011544691.1:c.1100G>A (MTMR7)	XP_011542993.1:p.Arg367Gln
XM_011544692.1:c.419G>A (MTMR7)	XP_011542994.1:p.Arg140Gln
XM_011544693.1:c.371G>A (MTMR7)	XP_011542995.1:p.Arg124Gln
XM_011544693.2:c.371G>A (MTMR7)	XP_011542995.1:p.Arg124Gln
XM_017013956.2:c.218G>A (MTMR7)	XP_016869445.1:p.Arg73Gln
XM_024447325.1:c.419G>A (MTMR7)	XP_024303093.1:p.Arg140Gln