Canonical Allele Identifier: CA461859117

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93786332-T-A
• MyVariant Identifiers: chr8:g.94798560T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786332T>A , CM000670.2:g.93786332T>A	GRCh38
NC_000008.10:g.94798560T>A , CM000670.1:g.94798560T>A	GRCh37
NC_000008.9:g.94867736T>A	NCBI36
NG_009190.1:g.36489T>A , LRG_688:g.36489T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1398T>A	ENSP00000314488.4:p.Thr466=
ENST00000409623.8:c.1353T>A	ENSP00000386966.4:p.Thr451=
ENST00000452276.6:c.1398T>A	ENSP00000388671.2:p.Thr466=
ENST00000453906.6:c.516T>A	ENSP00000403035.2:p.Thr172=
ENST00000520680.2:c.1398T>A	ENSP00000428785.2:p.Thr466=
ENST00000521517.6:c.1398T>A	ENSP00000430740.2:p.Thr466=
ENST00000681998.1:c.1219T>A	ENSP00000506773.1:n.1219T>A
ENST00000682036.1:c.516T>A	ENSP00000508390.1:p.Thr172=
ENST00000682577.1:c.1171T>A	ENSP00000506963.1:n.1171T>A
ENST00000682624.1:c.*972T>A	ENSP00000508343.1:n.*972T>A
ENST00000682700.1:c.1398T>A	ENSP00000507627.1:p.Thr466=
ENST00000682744.1:n.936T>A
ENST00000682804.1:n.1221T>A
ENST00000682837.1:c.887T>A	ENSP00000507920.1:n.887T>A
ENST00000682935.1:n.3448T>A
ENST00000682984.1:c.1059T>A	ENSP00000507209.1:p.Thr353=
ENST00000683078.1:c.1153T>A	ENSP00000506796.1:n.1153T>A
ENST00000683223.1:c.1130T>A	ENSP00000507685.1:n.1130T>A
ENST00000683238.1:n.2622T>A
ENST00000683249.1:n.2995T>A
ENST00000683336.1:c.1219T>A	ENSP00000507695.1:n.1219T>A
ENST00000683362.1:c.1059T>A	ENSP00000506985.1:p.Thr353=
ENST00000683850.1:n.1321T>A
ENST00000683919.1:c.1328T>A	ENSP00000507617.1:n.1328T>A
ENST00000683953.1:c.1309T>A	ENSP00000508375.1:n.1309T>A
ENST00000684023.1:c.1375T>A	ENSP00000507461.1:n.1375T>A
ENST00000684064.1:c.1089T>A	ENSP00000508192.1:p.Thr363=
ENST00000684089.1:n.2948T>A
ENST00000684149.1:c.*577T>A	ENSP00000507943.1:n.*577T>A
ENST00000684416.1:n.1357T>A
ENST00000684540.1:c.1328T>A	ENSP00000507987.1:n.1328T>A
ENST00000453321.8:c.1398T>A MANE Select	ENSP00000389998.3:p.Thr466=
ENST00000323130.7:c.1368T>A	ENSP00000314488.3:p.Thr456=
ENST00000409623.7:c.1155T>A	ENSP00000386966.3:p.Thr385=
ENST00000452276.5:c.1089T>A	ENSP00000388671.1:p.Thr363=
ENST00000453321.7:c.1398T>A	ENSP00000389998.3:p.Thr466=
ENST00000453906.5:c.516T>A	ENSP00000403035.1:p.Thr172=
ENST00000474944.5:n.536T>A
ENST00000520680.1:c.220T>A
NM_001142301.1:c.1155T>A , LRG_688t2:c.1155T>A	NP_001135773.1:p.Thr385=
NM_153704.5:c.1398T>A , LRG_688t1:c.1398T>A	NP_714915.3:p.Thr466=
NR_024522.1:n.1469T>A
XM_006716686.2:c.1095T>A	XP_006716749.1:p.Thr365=
XM_006716687.2:c.798T>A	XP_006716750.1:p.Thr266=
XM_011517363.1:c.516T>A	XP_011515665.1:p.Thr172=
XR_428387.1:n.1456T>A
XR_928360.1:n.1456T>A
XR_928361.1:n.1456T>A
XR_928362.1:n.1456T>A
XM_006716686.4:c.1095T>A	XP_006716749.1:p.Thr365=
XM_011517363.3:c.516T>A	XP_011515665.1:p.Thr172=
XM_024447326.1:c.744T>A	XP_024303094.1:p.Thr248=
XR_001745619.2:n.1439T>A
XR_428387.2:n.1439T>A
XR_928360.3:n.1439T>A
XR_928362.3:n.1439T>A
NM_153704.6:c.1398T>A MANE Select	NP_714915.3:p.Thr466=
NR_024522.2:n.1419T>A