Canonical Allele Identifier: CA371687709

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780600-C-A
• MyVariant Identifiers: chr8:g.94792828C>A (hg19) ; chr8:g.93780600C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780600C>A , CM000670.2:g.93780600C>A	GRCh38
NC_000008.10:g.94792828C>A , CM000670.1:g.94792828C>A	GRCh37
NC_000008.9:g.94862004C>A	NCBI36
NG_009190.1:g.30757C>A , LRG_688:g.30757C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.722C>A	ENSP00000314488.4:p.Ala241Asp
ENST00000409623.8:c.722C>A	ENSP00000386966.4:p.Ala241Asp
ENST00000452276.6:c.722C>A	ENSP00000388671.2:p.Ala241Asp
ENST00000453906.6:c.407-5623C>A	ENSP00000403035.2:n.407-5623C>A
ENST00000520680.2:c.722C>A	ENSP00000428785.2:p.Ala241Asp
ENST00000521065.2:c.*439C>A	ENSP00000427947.2:n.*439C>A
ENST00000521517.6:c.722C>A	ENSP00000430740.2:p.Ala241Asp
ENST00000681998.1:c.652C>A	ENSP00000506773.1:n.652C>A
ENST00000682036.1:c.407-5623C>A	ENSP00000508390.1:n.407-5623C>A
ENST00000682577.1:c.652C>A	ENSP00000506963.1:n.652C>A
ENST00000682624.1:c.*296C>A	ENSP00000508343.1:n.*296C>A
ENST00000682700.1:c.722C>A	ENSP00000507627.1:p.Ala241Asp
ENST00000682744.1:n.260C>A
ENST00000682804.1:n.545C>A
ENST00000682837.1:c.477C>A	ENSP00000507920.1:p.Cys159Ter
ENST00000682935.1:n.2282C>A
ENST00000682984.1:c.383C>A	ENSP00000507209.1:p.Ala128Asp
ENST00000683078.1:c.477C>A	ENSP00000506796.1:p.Cys159Ter
ENST00000683223.1:c.563C>A	ENSP00000507685.1:n.563C>A
ENST00000683238.1:n.2103C>A
ENST00000683249.1:n.2303C>A
ENST00000683336.1:c.652C>A	ENSP00000507695.1:n.652C>A
ENST00000683362.1:c.383C>A	ENSP00000506985.1:p.Ala128Asp
ENST00000683850.1:n.645C>A
ENST00000683919.1:c.652C>A	ENSP00000507617.1:n.652C>A
ENST00000683953.1:c.633C>A	ENSP00000508375.1:n.633C>A
ENST00000684023.1:c.856C>A	ENSP00000507461.1:n.856C>A
ENST00000684064.1:c.413C>A	ENSP00000508192.1:p.Ala138Asp
ENST00000684089.1:n.2272C>A
ENST00000684149.1:c.*58C>A	ENSP00000507943.1:n.*58C>A
ENST00000684416.1:n.681C>A
ENST00000684540.1:c.652C>A	ENSP00000507987.1:n.652C>A
ENST00000453321.8:c.722C>A MANE Select	ENSP00000389998.3:p.Ala241Asp
ENST00000323130.7:c.692C>A	ENSP00000314488.3:p.Ala231Asp
ENST00000409623.7:c.479C>A	ENSP00000386966.3:p.Ala160Asp
ENST00000425545.2:n.169C>A
ENST00000452276.5:c.413C>A	ENSP00000388671.1:p.Ala138Asp
ENST00000453321.7:c.722C>A	ENSP00000389998.3:p.Ala241Asp
ENST00000453906.5:c.407-5623C>A	ENSP00000403035.1:n.407-5623C>A
ENST00000474944.5:n.427-5623C>A
ENST00000496213.5:n.187C>A
NM_001142301.1:c.479C>A , LRG_688t2:c.479C>A	NP_001135773.1:p.Ala160Asp
NM_153704.5:c.722C>A , LRG_688t1:c.722C>A	NP_714915.3:p.Ala241Asp
NR_024522.1:n.793C>A
XM_006716686.2:c.419C>A	XP_006716749.1:p.Ala140Asp
XM_006716687.2:c.122C>A	XP_006716750.1:p.Ala41Asp
XM_011517363.1:c.407-5623C>A	XP_011515665.1:n.407-5623C>A
XR_428387.1:n.780C>A
XR_928360.1:n.780C>A
XR_928361.1:n.780C>A
XR_928362.1:n.780C>A
XM_006716686.4:c.419C>A	XP_006716749.1:p.Ala140Asp
XM_011517363.3:c.407-5623C>A	XP_011515665.1:n.407-5623C>A
XM_024447326.1:c.68C>A	XP_024303094.1:p.Ala23Asp
XR_001745619.2:n.763C>A
XR_428387.2:n.763C>A
XR_928360.3:n.763C>A
XR_928362.3:n.763C>A
NM_153704.6:c.722C>A MANE Select	NP_714915.3:p.Ala241Asp
NR_024522.2:n.743C>A