Canonical Allele Identifier: CA371699134

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93808946-C-A
• MyVariant Identifiers: chr8:g.94821174C>A (hg19) ; chr8:g.93808946C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808946C>A , CM000670.2:g.93808946C>A	GRCh38
NC_000008.10:g.94821174C>A , CM000670.1:g.94821174C>A	GRCh37
NC_000008.9:g.94890350C>A	NCBI36
NG_009190.1:g.59103C>A , LRG_688:g.59103C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2546C>A	ENSP00000314488.4:p.Thr849Lys
ENST00000409623.8:c.2501C>A	ENSP00000386966.4:p.Thr834Lys
ENST00000452276.6:c.2429C>A	ENSP00000388671.2:p.Thr810Lys
ENST00000453906.6:c.1664C>A	ENSP00000403035.2:p.Thr555Lys
ENST00000518896.2:c.837C>A	ENSP00000507992.1:n.837C>A
ENST00000520680.2:c.2669C>A	ENSP00000428785.2:p.Thr890Lys
ENST00000521517.6:c.2447C>A	ENSP00000430740.2:p.Thr816Lys
ENST00000681998.1:c.2367C>A	ENSP00000506773.1:n.2367C>A
ENST00000682036.1:c.1787C>A	ENSP00000508390.1:p.Thr596Lys
ENST00000682577.1:c.2319C>A	ENSP00000506963.1:n.2319C>A
ENST00000682624.1:c.*2120C>A	ENSP00000508343.1:n.*2120C>A
ENST00000682700.1:c.2546C>A	ENSP00000507627.1:p.Thr849Lys
ENST00000682744.1:n.2084C>A
ENST00000682804.1:n.2369C>A
ENST00000682837.1:c.2035C>A	ENSP00000507920.1:n.2035C>A
ENST00000682935.1:n.4596C>A
ENST00000682984.1:c.2207C>A	ENSP00000507209.1:p.Thr736Lys
ENST00000683078.1:c.2301C>A	ENSP00000506796.1:n.2301C>A
ENST00000683223.1:c.2278C>A	ENSP00000507685.1:n.2278C>A
ENST00000683238.1:n.3770C>A
ENST00000683249.1:n.4143C>A
ENST00000683336.1:c.2367C>A	ENSP00000507695.1:n.2367C>A
ENST00000683362.1:c.2207C>A	ENSP00000506985.1:p.Thr736Lys
ENST00000683850.1:n.2469C>A
ENST00000683919.1:c.2476C>A	ENSP00000507617.1:n.2476C>A
ENST00000683953.1:c.2457C>A	ENSP00000508375.1:n.2457C>A
ENST00000684023.1:c.2523C>A	ENSP00000507461.1:n.2523C>A
ENST00000684064.1:c.2237C>A	ENSP00000508192.1:p.Thr746Lys
ENST00000684089.1:n.4096C>A
ENST00000684149.1:c.*1725C>A	ENSP00000507943.1:n.*1725C>A
ENST00000684343.1:c.743C>A	ENSP00000507591.1:p.Thr248Lys
ENST00000684416.1:n.2505C>A
ENST00000684540.1:c.2476C>A	ENSP00000507987.1:n.2476C>A
ENST00000453321.8:c.2546C>A MANE Select	ENSP00000389998.3:p.Thr849Lys
ENST00000323130.7:c.2516C>A	ENSP00000314488.3:p.Thr839Lys
ENST00000409623.7:c.2303C>A	ENSP00000386966.3:p.Thr768Lys
ENST00000453321.7:c.2546C>A	ENSP00000389998.3:p.Thr849Lys
ENST00000474944.5:n.1684C>A
ENST00000519845.5:n.1278C>A
NM_001142301.1:c.2303C>A , LRG_688t2:c.2303C>A	NP_001135773.1:p.Thr768Lys
NM_153704.5:c.2546C>A , LRG_688t1:c.2546C>A	NP_714915.3:p.Thr849Lys
NR_024522.1:n.2617C>A
XM_006716686.2:c.2243C>A	XP_006716749.1:p.Thr748Lys
XM_006716687.2:c.1946C>A	XP_006716750.1:p.Thr649Lys
XM_011517363.1:c.1664C>A	XP_011515665.1:p.Thr555Lys
XR_428387.1:n.2604C>A
XR_928360.1:n.2604C>A
XR_928361.1:n.2604C>A
XR_928362.1:n.2604C>A
XM_006716686.4:c.2243C>A	XP_006716749.1:p.Thr748Lys
XM_011517363.3:c.1664C>A	XP_011515665.1:p.Thr555Lys
XM_024447326.1:c.1892C>A	XP_024303094.1:p.Thr631Lys
XR_001745619.2:n.2587C>A
XR_428387.2:n.2587C>A
XR_928360.3:n.2587C>A
XR_928362.3:n.2587C>A
NM_153704.6:c.2546C>A MANE Select	NP_714915.3:p.Thr849Lys
NR_024522.2:n.2567C>A