Canonical Allele Identifier: CA381717588

Gene: TOMT LRTOMT LRRC51

Linked Data

• MyVariant Identifiers: chr11:g.71817109G>C (hg19) ; chr11:g.72106063G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106063G>C , CM000673.2:g.72106063G>C	GRCh38
NC_000011.9:g.71817109G>C , CM000673.1:g.71817109G>C	GRCh37
NC_000011.8:g.71494757G>C	NCBI36
NG_021423.1:g.30728G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.112G>C (TOMT) MANE Select	ENSP00000494667.1:p.Asp38His
ENST00000541899.2:c.112G>C (TOMT)	ENSP00000494667.1:p.Asp38His
ENST00000643715.1:c.438-2542G>C (LRTOMT)	ENSP00000496019.1:n.438-2542G>C
ENST00000646163.1:c.80G>C (LRTOMT)	ENSP00000494749.1:p.Arg27Thr
ENST00000307198.11:c.211G>C (LRRC51)	ENSP00000305742.7:p.Asp71His
ENST00000419228.2:c.91G>C (LRRC51)	ENSP00000392233.2:p.Asp31His
ENST00000427369.6:c.614G>C (LRRC51)	ENSP00000409403.2:p.Arg205Thr
ENST00000435085.5:c.211G>C (LRRC51)	ENSP00000409789.1:p.Asp71His
ENST00000439209.5:c.438-2542G>C (LRRC51)	ENSP00000395139.1:n.438-2542G>C
ENST00000541899.1:n.269G>C (LRRC51)
ENST00000544409.5:c.494G>C (LRRC51)	ENSP00000440969.1:p.Arg165Thr
NM_001145308.4:c.211G>C (LRTOMT)	NP_001138780.1:p.Asp71His
NM_001145309.3:c.211G>C (LRTOMT)	NP_001138781.1:p.Asp71His
NM_001145310.3:c.91G>C (LRTOMT)	NP_001138782.1:p.Asp31His
XM_011544849.1:c.436G>C (LRTOMT)	XP_011543151.1:p.Asp146His
XM_024448401.1:c.436G>C (LRTOMT)	XP_024304169.1:p.Asp146His
NM_001145308.5:c.211G>C (LRTOMT)	NP_001138780.1:p.Asp71His
NM_001145309.4:c.211G>C (LRTOMT)	NP_001138781.1:p.Asp71His
NM_001145310.4:c.91G>C (LRTOMT)	NP_001138782.1:p.Asp31His
NM_001393500.1:c.112G>C (TOMT)	NP_001380429.1:p.Asp38His
NM_001393500.2:c.112G>C (TOMT) MANE Select	NP_001380429.1:p.Asp38His