Canonical Allele Identifier: CA1071784

Gene: MTMR11

Linked Data

• dbSNP Id: rs782495483
• ExAC: 1:149902246 A / G
• gnomAD v2: 1-149902246-A-G
• gnomAD v3: 1-149930354-A-G
• gnomAD v4: 1-149930354-A-G
• MyVariant Identifiers: chr1:g.149902246A>G (hg19) ; chr1:g.149930354A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149930354A>G , CM000663.2:g.149930354A>G	GRCh38
NC_000001.10:g.149902246A>G , CM000663.1:g.149902246A>G	GRCh37
NC_000001.9:g.148168870A>G	NCBI36
NG_032777.1:g.2899T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000439741.4:c.1647+11T>C MANE Select	ENSP00000391668.2:n.1647+11T>C
ENST00000369140.7:c.1431+11T>C	ENSP00000358136.3:n.1431+11T>C
ENST00000439741.2:c.1647+11T>C	ENSP00000391668.2:n.1647+11T>C
ENST00000466496.5:n.967+11T>C
ENST00000482025.5:n.1873+11T>C
ENST00000482343.5:n.1471+11T>C
ENST00000490310.1:n.790T>C
ENST00000492824.5:n.2067+11T>C
ENST00000495054.1:n.690+11T>C
NM_001145862.1:c.1647+11T>C	NP_001139334.1:n.1647+11T>C
NM_181873.3:c.1431+11T>C	NP_870988.2:n.1431+11T>C
XM_006711135.1:c.1539+11T>C	XP_006711198.1:n.1539+11T>C
XM_006711136.2:c.1431+11T>C	XP_006711199.1:n.1431+11T>C
XM_006711137.1:c.1431+11T>C	XP_006711200.1:n.1431+11T>C
XM_011509098.1:c.1563+11T>C	XP_011507400.1:n.1563+11T>C
XM_011509099.1:c.*616T>C	XP_011507401.1:n.*616T>C
XR_426759.2:n.1838+11T>C
XR_426760.2:n.1744+11T>C
XM_011509099.3:c.*616T>C	XP_011507401.1:n.*616T>C
XM_024452577.1:c.1563+11T>C	XP_024308345.1:n.1563+11T>C
XM_024452578.1:c.1539+11T>C	XP_024308346.1:n.1539+11T>C
XR_002959043.1:n.1860+11T>C
XR_002959062.1:n.1976+11T>C
XR_002959066.1:n.1678+11T>C
XR_002959067.1:n.3197+11T>C
XR_426760.4:n.1766+11T>C
NM_001145862.2:c.1647+11T>C MANE Select	NP_001139334.1:n.1647+11T>C