Canonical Allele Identifier: CA342284392

Gene: MTMR11

Linked Data

• MyVariant Identifiers: chr1:g.149902268G>C (hg19) ; chr1:g.149930376G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149930376G>C , CM000663.2:g.149930376G>C	GRCh38
NC_000001.10:g.149902268G>C , CM000663.1:g.149902268G>C	GRCh37
NC_000001.9:g.148168892G>C	NCBI36
NG_032777.1:g.2877C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439741.4:c.1636C>G MANE Select	ENSP00000391668.2:p.Pro546Ala
ENST00000369140.7:c.1420C>G	ENSP00000358136.3:p.Pro474Ala
ENST00000439741.2:c.1636C>G	ENSP00000391668.2:p.Pro546Ala
ENST00000466496.5:n.956C>G
ENST00000482025.5:n.1862C>G
ENST00000482343.5:n.1460C>G
ENST00000490310.1:n.768C>G
ENST00000492824.5:n.2056C>G
ENST00000495054.1:n.679C>G
NM_001145862.1:c.1636C>G	NP_001139334.1:p.Pro546Ala
NM_181873.3:c.1420C>G	NP_870988.2:p.Pro474Ala
XM_006711135.1:c.1528C>G	XP_006711198.1:p.Pro510Ala
XM_006711136.2:c.1420C>G	XP_006711199.1:p.Pro474Ala
XM_006711137.1:c.1420C>G	XP_006711200.1:p.Pro474Ala
XM_011509098.1:c.1552C>G	XP_011507400.1:p.Pro518Ala
XM_011509099.1:c.*594C>G	XP_011507401.1:n.*594C>G
XR_426759.2:n.1827C>G
XR_426760.2:n.1733C>G
XM_011509099.3:c.*594C>G	XP_011507401.1:n.*594C>G
XM_024452577.1:c.1552C>G	XP_024308345.1:p.Pro518Ala
XM_024452578.1:c.1528C>G	XP_024308346.1:p.Pro510Ala
XR_002959043.1:n.1849C>G
XR_002959062.1:n.1965C>G
XR_002959066.1:n.1667C>G
XR_002959067.1:n.3186C>G
XR_426760.4:n.1755C>G
NM_001145862.2:c.1636C>G MANE Select	NP_001139334.1:p.Pro546Ala