Canonical Allele Identifier: CA224374421

Linked Data

dbSNP Id: rs371708775

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72105953T>C , CM000673.2:g.72105953T>C GRCh38
NC_000011.9:g.71816999T>C , CM000673.1:g.71816999T>C GRCh37
NC_000011.8:g.71494647T>C NCBI36
NG_021423.1:g.30618T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.2T>C (TOMT) MANE Select ENSP00000494667.1:p.Met1Thr
ENST00000541899.2:c.2T>C (TOMT) ENSP00000494667.1:p.Met1Thr
ENST00000643715.1:c.438-2652T>C (LRTOMT) ENSP00000496019.1:n.438-2652T>C
ENST00000646163.1:c.73-103T>C (LRTOMT) ENSP00000494749.1:n.73-103T>C
ENST00000307198.11:c.101T>C (LRRC51) ENSP00000305742.7:p.Met34Thr
ENST00000419228.2:c.84-103T>C (LRRC51) ENSP00000392233.2:n.84-103T>C
ENST00000427369.6:c.504T>C (LRRC51) ENSP00000409403.2:p.His168=
ENST00000435085.5:c.101T>C (LRRC51) ENSP00000409789.1:p.Met34Thr
ENST00000439209.5:c.438-2652T>C (LRRC51) ENSP00000395139.1:n.438-2652T>C
ENST00000541899.1:n.159T>C (LRRC51)
ENST00000544409.5:c.487-103T>C (LRRC51) ENSP00000440969.1:n.487-103T>C
NM_001145308.4:c.101T>C (LRTOMT) NP_001138780.1:p.Met34Thr
NM_001145309.3:c.101T>C (LRTOMT) NP_001138781.1:p.Met34Thr
NM_001145310.3:c.84-103T>C (LRTOMT) NP_001138782.1:n.84-103T>C
XM_011544849.1:c.326T>C (LRTOMT) XP_011543151.1:p.Met109Thr
XM_024448401.1:c.326T>C (LRTOMT) XP_024304169.1:p.Met109Thr
NM_001145308.5:c.101T>C (LRTOMT) NP_001138780.1:p.Met34Thr
NM_001145309.4:c.101T>C (LRTOMT) NP_001138781.1:p.Met34Thr
NM_001145310.4:c.84-103T>C (LRTOMT) NP_001138782.1:n.84-103T>C
NM_001393500.1:c.2T>C (TOMT) NP_001380429.1:p.Met1Thr
NM_001393500.2:c.2T>C (TOMT) MANE Select NP_001380429.1:p.Met1Thr