Canonical Allele Identifier: CA380680270

Gene: TMEM138

Linked Data

• gnomAD v4: 11-61367998-G-C
• MyVariant Identifiers: chr11:g.61135470G>C (hg19) ; chr11:g.61367998G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61367998G>C , CM000673.2:g.61367998G>C	GRCh38
NC_000011.9:g.61135470G>C , CM000673.1:g.61135470G>C	GRCh37
NC_000011.8:g.60892046G>C	NCBI36
NG_032581.1:g.10998G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000451389.7:c.376G>C	ENSP00000508581.1:p.Gly126Arg
ENST00000507563.7:c.*123G>C	ENSP00000510363.1:n.*123G>C
ENST00000542946.2:c.*1764G>C	ENSP00000445792.1:n.*1764G>C
ENST00000543594.6:c.*587G>C	ENSP00000509354.1:n.*587G>C
ENST00000685597.1:c.376G>C	ENSP00000509403.1:p.Gly126Arg
ENST00000686820.1:c.*123G>C	ENSP00000508587.1:n.*123G>C
ENST00000688279.1:c.*123G>C	ENSP00000510422.1:n.*123G>C
ENST00000688430.1:n.302G>C
ENST00000689076.1:c.*1764G>C	ENSP00000508469.1:n.*1764G>C
ENST00000689882.1:c.*1829G>C	ENSP00000509351.1:n.*1829G>C
ENST00000691720.1:c.376G>C	ENSP00000509146.1:p.Val126Leu
ENST00000692219.1:c.376G>C	ENSP00000510149.1:p.Ala126Pro
ENST00000692667.1:c.376G>C	ENSP00000510180.1:p.Val126Leu
ENST00000692785.1:c.376G>C	ENSP00000509310.1:p.Gly126Arg
ENST00000693557.1:c.*427G>C	ENSP00000508970.1:n.*427G>C
ENST00000278826.11:c.376G>C MANE Select	ENSP00000278826.5:p.Ala126Pro
ENST00000278826.10:c.376G>C	ENSP00000278826.5:p.Ala126Pro
ENST00000381787.2:c.202G>C	ENSP00000371206.2:p.Ala68Pro
ENST00000423772.6:n.1895G>C
ENST00000451389.6:n.517G>C
ENST00000507563.6:n.549G>C
ENST00000539776.1:n.1020G>C
ENST00000542946.1:c.*1764G>C	ENSP00000445792.1:n.*1764G>C
ENST00000543833.1:n.94G>C
ENST00000545420.1:n.400G>C
NM_016464.4:c.376G>C	NP_057548.1:p.Ala126Pro
NR_028473.1:n.818G>C
XM_006718585.2:c.376G>C	XP_006718648.1:p.Gly126Arg
XM_006718586.1:c.376G>C	XP_006718649.1:p.Ala126Pro
XM_006718588.2:c.202G>C	XP_006718651.1:p.Ala68Pro
XM_011545098.1:c.376G>C	XP_011543400.1:p.Glu126Gln
XM_011545099.1:c.376G>C	XP_011543401.1:p.Val126Leu
XM_011545100.1:c.376G>C	XP_011543402.1:p.Gly126Arg
XR_949964.1:n.1070G>C
XR_949965.1:n.1070G>C
XR_949966.1:n.1070G>C
NM_001330281.1:c.202G>C	NP_001317210.1:p.Ala68Pro
XM_006718585.3:c.376G>C	XP_006718648.1:p.Gly126Arg
XM_006718586.2:c.376G>C	XP_006718649.1:p.Ala126Pro
XM_011545098.2:c.376G>C	XP_011543400.1:p.Glu126Gln
XM_011545099.2:c.376G>C	XP_011543401.1:p.Val126Leu
XM_017017917.1:c.300+1782G>C	XP_016873406.1:n.300+1782G>C
XR_949964.3:n.1070G>C
XR_949966.2:n.1070G>C
NM_016464.5:c.376G>C MANE Select	NP_057548.1:p.Ala126Pro
NM_001330281.2:c.202G>C	NP_001317210.1:p.Ala68Pro
NR_028473.2:n.445G>C