Canonical Allele Identifier: CA342284373

Gene: MTMR11

Linked Data

• MyVariant Identifiers: chr1:g.149902264C>A (hg19) ; chr1:g.149930372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149930372C>A , CM000663.2:g.149930372C>A	GRCh38
NC_000001.10:g.149902264C>A , CM000663.1:g.149902264C>A	GRCh37
NC_000001.9:g.148168888C>A	NCBI36
NG_032777.1:g.2881G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000439741.4:c.1640G>T MANE Select	ENSP00000391668.2:p.Arg547Ile
ENST00000369140.7:c.1424G>T	ENSP00000358136.3:p.Arg475Ile
ENST00000439741.2:c.1640G>T	ENSP00000391668.2:p.Arg547Ile
ENST00000466496.5:n.960G>T
ENST00000482025.5:n.1866G>T
ENST00000482343.5:n.1464G>T
ENST00000490310.1:n.772G>T
ENST00000492824.5:n.2060G>T
ENST00000495054.1:n.683G>T
NM_001145862.1:c.1640G>T	NP_001139334.1:p.Arg547Ile
NM_181873.3:c.1424G>T	NP_870988.2:p.Arg475Ile
XM_006711135.1:c.1532G>T	XP_006711198.1:p.Arg511Ile
XM_006711136.2:c.1424G>T	XP_006711199.1:p.Arg475Ile
XM_006711137.1:c.1424G>T	XP_006711200.1:p.Arg475Ile
XM_011509098.1:c.1556G>T	XP_011507400.1:p.Arg519Ile
XM_011509099.1:c.*598G>T	XP_011507401.1:n.*598G>T
XR_426759.2:n.1831G>T
XR_426760.2:n.1737G>T
XM_011509099.3:c.*598G>T	XP_011507401.1:n.*598G>T
XM_024452577.1:c.1556G>T	XP_024308345.1:p.Arg519Ile
XM_024452578.1:c.1532G>T	XP_024308346.1:p.Arg511Ile
XR_002959043.1:n.1853G>T
XR_002959062.1:n.1969G>T
XR_002959066.1:n.1671G>T
XR_002959067.1:n.3190G>T
XR_426760.4:n.1759G>T
NM_001145862.2:c.1640G>T MANE Select	NP_001139334.1:p.Arg547Ile