Canonical Allele Identifier: CA381539651

Gene: TMEM134

Linked Data

• ClinVar Variation Id: 2327628
• ClinVar RCV Id: RCV004167845
• dbSNP Id: rs1401499361
• gnomAD v2: 11-67235033-A-G
• gnomAD v4: 11-67467562-A-G
• MyVariant Identifiers: chr11:g.67235033A>G (hg19) ; chr11:g.67467562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67467562A>G , CM000673.2:g.67467562A>G	GRCh38
NC_000011.9:g.67235033A>G , CM000673.1:g.67235033A>G	GRCh37
NC_000011.8:g.66991609A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308022.7:c.268T>C MANE Select	ENSP00000312615.2:p.Ser90Pro
ENST00000308022.6:c.268T>C	ENSP00000312615.2:p.Ser90Pro
ENST00000393877.3:c.268T>C	ENSP00000377455.3:p.Ser90Pro
ENST00000452789.6:n.321T>C
ENST00000501408.6:n.323T>C
ENST00000535585.5:n.217T>C
ENST00000535813.5:c.29T>C
ENST00000536020.5:c.252T>C	ENSP00000440630.1:p.Ala84=
ENST00000536773.1:n.319T>C
ENST00000537601.5:n.201T>C
ENST00000540133.1:c.279T>C	ENSP00000441975.1:p.Ala93=
ENST00000541598.5:n.312T>C
ENST00000544903.2:n.320T>C
ENST00000545682.5:c.268T>C	ENSP00000438439.1:p.Ser90Pro
NM_001078650.2:c.268T>C	NP_001072118.1:p.Ser90Pro
NM_001078651.2:c.241T>C	NP_001072119.1:p.Ser81Pro
NM_025124.3:c.268T>C	NP_079400.1:p.Ser90Pro
NR_073409.1:n.353T>C
NR_073410.1:n.337T>C
NR_073411.1:n.364T>C
NR_073412.1:n.353T>C
NR_073413.1:n.337T>C
XM_006718693.2:c.241T>C	XP_006718756.1:p.Ser81Pro
XM_011545268.1:c.268T>C	XP_011543570.1:p.Ser90Pro
XR_950061.1:n.321T>C
XR_950062.1:n.359T>C
XR_950064.1:n.344T>C
XR_950065.1:n.332T>C
XM_011545268.3:c.268T>C	XP_011543570.1:p.Ser90Pro
XM_017018356.1:c.268T>C	XP_016873845.1:p.Ser90Pro
XM_024448697.1:c.237T>C	XP_024304465.1:p.Ala79=
XR_001747983.2:n.359T>C
XR_950062.3:n.359T>C
XR_950064.3:n.359T>C
NM_025124.4:c.268T>C MANE Select	NP_079400.1:p.Ser90Pro
NM_001078650.3:c.268T>C	NP_001072118.1:p.Ser90Pro
NM_001078651.3:c.241T>C	NP_001072119.1:p.Ser81Pro
NR_073409.2:n.327T>C
NR_073410.2:n.311T>C
NR_073411.2:n.338T>C
NR_073412.2:n.327T>C
NR_073413.2:n.311T>C