Canonical Allele Identifier: CA4644204

Gene: MTMR7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17348982C>T , CM000670.2:g.17348982C>T	GRCh38
NC_000008.10:g.17206491C>T , CM000670.1:g.17206491C>T	GRCh37
NC_000008.9:g.17250862C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000180173.10:c.568G>A MANE Select	ENSP00000180173.4:p.Val190Ile
ENST00000180173.9:c.568G>A	ENSP00000180173.4:p.Val190Ile
ENST00000517317.5:c.*92G>A	ENSP00000431000.1:n.*92G>A
ENST00000518272.5:n.169G>A
ENST00000519122.5:n.76G>A
ENST00000521857.5:c.568G>A	ENSP00000429733.1:p.Val190Ile
ENST00000523571.1:n.293G>A
NM_004686.4:c.568G>A	NP_004677.3:p.Val190Ile
XM_011544691.1:c.586G>A	XP_011542993.1:p.Val196Ile
XM_011544692.1:c.-242G>A	XP_011542994.1:n.-242G>A
XR_428318.2:n.232+3737C>T
XM_017013956.2:c.-164G>A	XP_016869445.1:n.-164G>A
XM_024447325.1:c.-242G>A	XP_024303093.1:n.-242G>A
XR_428318.3:n.640+3737C>T
NM_004686.5:c.568G>A MANE Select	NP_004677.3:p.Val190Ile