Canonical Allele Identifier: CA475864741

Linked Data

MyVariant Identifiers: chr11:g.71816994G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72105948G>C , CM000673.2:g.72105948G>C GRCh38
NC_000011.9:g.71816994G>C , CM000673.1:g.71816994G>C GRCh37
NC_000011.8:g.71494642G>C NCBI36
NG_021423.1:g.30613G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.-4G>C (TOMT) MANE Select ENSP00000494667.1:n.-4G>C
ENST00000541899.2:c.-4G>C (TOMT) ENSP00000494667.1:n.-4G>C
ENST00000643715.1:c.438-2657G>C (LRTOMT) ENSP00000496019.1:n.438-2657G>C
ENST00000646163.1:c.73-108G>C (LRTOMT) ENSP00000494749.1:n.73-108G>C
ENST00000307198.11:c.96G>C (LRRC51) ENSP00000305742.7:p.Gly32=
ENST00000419228.2:c.84-108G>C (LRRC51) ENSP00000392233.2:n.84-108G>C
ENST00000427369.6:c.499G>C (LRRC51) ENSP00000409403.2:p.Asp167His
ENST00000435085.5:c.96G>C (LRRC51) ENSP00000409789.1:p.Gly32=
ENST00000439209.5:c.438-2657G>C (LRRC51) ENSP00000395139.1:n.438-2657G>C
ENST00000541899.1:n.154G>C (LRRC51)
ENST00000544409.5:c.487-108G>C (LRRC51) ENSP00000440969.1:n.487-108G>C
NM_001145308.4:c.96G>C (LRTOMT) NP_001138780.1:p.Gly32=
NM_001145309.3:c.96G>C (LRTOMT) NP_001138781.1:p.Gly32=
NM_001145310.3:c.84-108G>C (LRTOMT) NP_001138782.1:n.84-108G>C
XM_011544849.1:c.321G>C (LRTOMT) XP_011543151.1:p.Gly107=
XM_024448401.1:c.321G>C (LRTOMT) XP_024304169.1:p.Gly107=
NM_001145308.5:c.96G>C (LRTOMT) NP_001138780.1:p.Gly32=
NM_001145309.4:c.96G>C (LRTOMT) NP_001138781.1:p.Gly32=
NM_001145310.4:c.84-108G>C (LRTOMT) NP_001138782.1:n.84-108G>C
NM_001393500.1:c.-4G>C (TOMT) NP_001380429.1:n.-4G>C
NM_001393500.2:c.-4G>C (TOMT) MANE Select NP_001380429.1:n.-4G>C