Canonical Allele Identifier: CA371687717

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780604-T-G
• MyVariant Identifiers: chr8:g.94792832T>G (hg19) ; chr8:g.93780604T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780604T>G , CM000670.2:g.93780604T>G	GRCh38
NC_000008.10:g.94792832T>G , CM000670.1:g.94792832T>G	GRCh37
NC_000008.9:g.94862008T>G	NCBI36
NG_009190.1:g.30761T>G , LRG_688:g.30761T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.726T>G	ENSP00000314488.4:p.Asn242Lys
ENST00000409623.8:c.726T>G	ENSP00000386966.4:p.Asn242Lys
ENST00000452276.6:c.726T>G	ENSP00000388671.2:p.Asn242Lys
ENST00000453906.6:c.407-5619T>G	ENSP00000403035.2:n.407-5619T>G
ENST00000520680.2:c.726T>G	ENSP00000428785.2:p.Asn242Lys
ENST00000521065.2:c.*443T>G	ENSP00000427947.2:n.*443T>G
ENST00000521517.6:c.726T>G	ENSP00000430740.2:p.Asn242Lys
ENST00000681998.1:c.656T>G	ENSP00000506773.1:n.656T>G
ENST00000682036.1:c.407-5619T>G	ENSP00000508390.1:n.407-5619T>G
ENST00000682577.1:c.656T>G	ENSP00000506963.1:n.656T>G
ENST00000682624.1:c.*300T>G	ENSP00000508343.1:n.*300T>G
ENST00000682700.1:c.726T>G	ENSP00000507627.1:p.Asn242Lys
ENST00000682744.1:n.264T>G
ENST00000682804.1:n.549T>G
ENST00000682837.1:c.481T>G	ENSP00000507920.1:p.Ser161Ala
ENST00000682935.1:n.2286T>G
ENST00000682984.1:c.387T>G	ENSP00000507209.1:p.Asn129Lys
ENST00000683078.1:c.481T>G	ENSP00000506796.1:p.Ser161Ala
ENST00000683223.1:c.567T>G	ENSP00000507685.1:n.567T>G
ENST00000683238.1:n.2107T>G
ENST00000683249.1:n.2307T>G
ENST00000683336.1:c.656T>G	ENSP00000507695.1:n.656T>G
ENST00000683362.1:c.387T>G	ENSP00000506985.1:p.Asn129Lys
ENST00000683850.1:n.649T>G
ENST00000683919.1:c.656T>G	ENSP00000507617.1:n.656T>G
ENST00000683953.1:c.637T>G	ENSP00000508375.1:n.637T>G
ENST00000684023.1:c.860T>G	ENSP00000507461.1:n.860T>G
ENST00000684064.1:c.417T>G	ENSP00000508192.1:p.Asn139Lys
ENST00000684089.1:n.2276T>G
ENST00000684149.1:c.*62T>G	ENSP00000507943.1:n.*62T>G
ENST00000684416.1:n.685T>G
ENST00000684540.1:c.656T>G	ENSP00000507987.1:n.656T>G
ENST00000453321.8:c.726T>G MANE Select	ENSP00000389998.3:p.Asn242Lys
ENST00000323130.7:c.696T>G	ENSP00000314488.3:p.Asn232Lys
ENST00000409623.7:c.483T>G	ENSP00000386966.3:p.Asn161Lys
ENST00000425545.2:n.173T>G
ENST00000452276.5:c.417T>G	ENSP00000388671.1:p.Asn139Lys
ENST00000453321.7:c.726T>G	ENSP00000389998.3:p.Asn242Lys
ENST00000453906.5:c.407-5619T>G	ENSP00000403035.1:n.407-5619T>G
ENST00000474944.5:n.427-5619T>G
ENST00000496213.5:n.191T>G
NM_001142301.1:c.483T>G , LRG_688t2:c.483T>G	NP_001135773.1:p.Asn161Lys
NM_153704.5:c.726T>G , LRG_688t1:c.726T>G	NP_714915.3:p.Asn242Lys
NR_024522.1:n.797T>G
XM_006716686.2:c.423T>G	XP_006716749.1:p.Asn141Lys
XM_006716687.2:c.126T>G	XP_006716750.1:p.Asn42Lys
XM_011517363.1:c.407-5619T>G	XP_011515665.1:n.407-5619T>G
XR_428387.1:n.784T>G
XR_928360.1:n.784T>G
XR_928361.1:n.784T>G
XR_928362.1:n.784T>G
XM_006716686.4:c.423T>G	XP_006716749.1:p.Asn141Lys
XM_011517363.3:c.407-5619T>G	XP_011515665.1:n.407-5619T>G
XM_024447326.1:c.72T>G	XP_024303094.1:p.Asn24Lys
XR_001745619.2:n.767T>G
XR_428387.2:n.767T>G
XR_928360.3:n.767T>G
XR_928362.3:n.767T>G
NM_153704.6:c.726T>G MANE Select	NP_714915.3:p.Asn242Lys
NR_024522.2:n.747T>G