Canonical Allele Identifier: CA371689710

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798491C>G (hg19) ; chr8:g.93786263C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786263C>G , CM000670.2:g.93786263C>G	GRCh38
NC_000008.10:g.94798491C>G , CM000670.1:g.94798491C>G	GRCh37
NC_000008.9:g.94867667C>G	NCBI36
NG_009190.1:g.36420C>G , LRG_688:g.36420C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1329C>G	ENSP00000314488.4:p.Phe443Leu
ENST00000409623.8:c.1289-5C>G	ENSP00000386966.4:n.1289-5C>G
ENST00000452276.6:c.1329C>G	ENSP00000388671.2:p.Phe443Leu
ENST00000453906.6:c.447C>G	ENSP00000403035.2:p.Phe149Leu
ENST00000520680.2:c.1329C>G	ENSP00000428785.2:p.Phe443Leu
ENST00000521517.6:c.1329C>G	ENSP00000430740.2:p.Phe443Leu
ENST00000681998.1:c.1150C>G	ENSP00000506773.1:n.1150C>G
ENST00000682036.1:c.447C>G	ENSP00000508390.1:p.Phe149Leu
ENST00000682577.1:c.1102C>G	ENSP00000506963.1:n.1102C>G
ENST00000682624.1:c.*903C>G	ENSP00000508343.1:n.*903C>G
ENST00000682700.1:c.1329C>G	ENSP00000507627.1:p.Phe443Leu
ENST00000682744.1:n.867C>G
ENST00000682804.1:n.1152C>G
ENST00000682837.1:c.818C>G	ENSP00000507920.1:n.818C>G
ENST00000682935.1:n.3379C>G
ENST00000682984.1:c.990C>G	ENSP00000507209.1:p.Phe330Leu
ENST00000683078.1:c.1084C>G	ENSP00000506796.1:n.1084C>G
ENST00000683223.1:c.1061C>G	ENSP00000507685.1:n.1061C>G
ENST00000683238.1:n.2553C>G
ENST00000683249.1:n.2926C>G
ENST00000683336.1:c.1150C>G	ENSP00000507695.1:n.1150C>G
ENST00000683362.1:c.990C>G	ENSP00000506985.1:p.Phe330Leu
ENST00000683850.1:n.1252C>G
ENST00000683919.1:c.1259C>G	ENSP00000507617.1:n.1259C>G
ENST00000683953.1:c.1240C>G	ENSP00000508375.1:n.1240C>G
ENST00000684023.1:c.1306C>G	ENSP00000507461.1:n.1306C>G
ENST00000684064.1:c.1020C>G	ENSP00000508192.1:p.Phe340Leu
ENST00000684089.1:n.2879C>G
ENST00000684149.1:c.*508C>G	ENSP00000507943.1:n.*508C>G
ENST00000684416.1:n.1288C>G
ENST00000684540.1:c.1259C>G	ENSP00000507987.1:n.1259C>G
ENST00000453321.8:c.1329C>G MANE Select	ENSP00000389998.3:p.Phe443Leu
ENST00000323130.7:c.1299C>G	ENSP00000314488.3:p.Phe433Leu
ENST00000409623.7:c.1086C>G	ENSP00000386966.3:p.Phe362Leu
ENST00000452276.5:c.1020C>G	ENSP00000388671.1:p.Phe340Leu
ENST00000453321.7:c.1329C>G	ENSP00000389998.3:p.Phe443Leu
ENST00000453906.5:c.447C>G	ENSP00000403035.1:p.Phe149Leu
ENST00000474944.5:n.467C>G
ENST00000520680.1:c.151C>G
NM_001142301.1:c.1086C>G , LRG_688t2:c.1086C>G	NP_001135773.1:p.Phe362Leu
NM_153704.5:c.1329C>G , LRG_688t1:c.1329C>G	NP_714915.3:p.Phe443Leu
NR_024522.1:n.1400C>G
XM_006716686.2:c.1026C>G	XP_006716749.1:p.Phe342Leu
XM_006716687.2:c.729C>G	XP_006716750.1:p.Phe243Leu
XM_011517363.1:c.447C>G	XP_011515665.1:p.Phe149Leu
XR_428387.1:n.1387C>G
XR_928360.1:n.1387C>G
XR_928361.1:n.1387C>G
XR_928362.1:n.1387C>G
XM_006716686.4:c.1026C>G	XP_006716749.1:p.Phe342Leu
XM_011517363.3:c.447C>G	XP_011515665.1:p.Phe149Leu
XM_024447326.1:c.675C>G	XP_024303094.1:p.Phe225Leu
XR_001745619.2:n.1370C>G
XR_428387.2:n.1370C>G
XR_928360.3:n.1370C>G
XR_928362.3:n.1370C>G
NM_153704.6:c.1329C>G MANE Select	NP_714915.3:p.Phe443Leu
NR_024522.2:n.1350C>G