Canonical Allele Identifier: CA342284324

Gene: MTMR11

Linked Data

• gnomAD v4: 1-149930369-G-A
• MyVariant Identifiers: chr1:g.149902261G>A (hg19) ; chr1:g.149930369G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149930369G>A , CM000663.2:g.149930369G>A	GRCh38
NC_000001.10:g.149902261G>A , CM000663.1:g.149902261G>A	GRCh37
NC_000001.9:g.148168885G>A	NCBI36
NG_032777.1:g.2884C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000439741.4:c.1643C>T MANE Select	ENSP00000391668.2:p.Pro548Leu
ENST00000369140.7:c.1427C>T	ENSP00000358136.3:p.Pro476Leu
ENST00000439741.2:c.1643C>T	ENSP00000391668.2:p.Pro548Leu
ENST00000466496.5:n.963C>T
ENST00000482025.5:n.1869C>T
ENST00000482343.5:n.1467C>T
ENST00000490310.1:n.775C>T
ENST00000492824.5:n.2063C>T
ENST00000495054.1:n.686C>T
NM_001145862.1:c.1643C>T	NP_001139334.1:p.Pro548Leu
NM_181873.3:c.1427C>T	NP_870988.2:p.Pro476Leu
XM_006711135.1:c.1535C>T	XP_006711198.1:p.Pro512Leu
XM_006711136.2:c.1427C>T	XP_006711199.1:p.Pro476Leu
XM_006711137.1:c.1427C>T	XP_006711200.1:p.Pro476Leu
XM_011509098.1:c.1559C>T	XP_011507400.1:p.Pro520Leu
XM_011509099.1:c.*601C>T	XP_011507401.1:n.*601C>T
XR_426759.2:n.1834C>T
XR_426760.2:n.1740C>T
XM_011509099.3:c.*601C>T	XP_011507401.1:n.*601C>T
XM_024452577.1:c.1559C>T	XP_024308345.1:p.Pro520Leu
XM_024452578.1:c.1535C>T	XP_024308346.1:p.Pro512Leu
XR_002959043.1:n.1856C>T
XR_002959062.1:n.1972C>T
XR_002959066.1:n.1674C>T
XR_002959067.1:n.3193C>T
XR_426760.4:n.1762C>T
NM_001145862.2:c.1643C>T MANE Select	NP_001139334.1:p.Pro548Leu