Canonical Allele Identifier: CA342284336

Gene: MTMR11

Linked Data

• MyVariant Identifiers: chr1:g.149902262G>C (hg19) ; chr1:g.149930370G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149930370G>C , CM000663.2:g.149930370G>C	GRCh38
NC_000001.10:g.149902262G>C , CM000663.1:g.149902262G>C	GRCh37
NC_000001.9:g.148168886G>C	NCBI36
NG_032777.1:g.2883C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000439741.4:c.1642C>G MANE Select	ENSP00000391668.2:p.Pro548Ala
ENST00000369140.7:c.1426C>G	ENSP00000358136.3:p.Pro476Ala
ENST00000439741.2:c.1642C>G	ENSP00000391668.2:p.Pro548Ala
ENST00000466496.5:n.962C>G
ENST00000482025.5:n.1868C>G
ENST00000482343.5:n.1466C>G
ENST00000490310.1:n.774C>G
ENST00000492824.5:n.2062C>G
ENST00000495054.1:n.685C>G
NM_001145862.1:c.1642C>G	NP_001139334.1:p.Pro548Ala
NM_181873.3:c.1426C>G	NP_870988.2:p.Pro476Ala
XM_006711135.1:c.1534C>G	XP_006711198.1:p.Pro512Ala
XM_006711136.2:c.1426C>G	XP_006711199.1:p.Pro476Ala
XM_006711137.1:c.1426C>G	XP_006711200.1:p.Pro476Ala
XM_011509098.1:c.1558C>G	XP_011507400.1:p.Pro520Ala
XM_011509099.1:c.*600C>G	XP_011507401.1:n.*600C>G
XR_426759.2:n.1833C>G
XR_426760.2:n.1739C>G
XM_011509099.3:c.*600C>G	XP_011507401.1:n.*600C>G
XM_024452577.1:c.1558C>G	XP_024308345.1:p.Pro520Ala
XM_024452578.1:c.1534C>G	XP_024308346.1:p.Pro512Ala
XR_002959043.1:n.1855C>G
XR_002959062.1:n.1971C>G
XR_002959066.1:n.1673C>G
XR_002959067.1:n.3192C>G
XR_426760.4:n.1761C>G
NM_001145862.2:c.1642C>G MANE Select	NP_001139334.1:p.Pro548Ala