Canonical Allele Identifier: CA371688462

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94793189C>G (hg19) ; chr8:g.93780961C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780961C>G , CM000670.2:g.93780961C>G	GRCh38
NC_000008.10:g.94793189C>G , CM000670.1:g.94793189C>G	GRCh37
NC_000008.9:g.94862365C>G	NCBI36
NG_009190.1:g.31118C>G , LRG_688:g.31118C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.957C>G	ENSP00000314488.4:p.Phe319Leu
ENST00000409623.8:c.957C>G	ENSP00000386966.4:p.Phe319Leu
ENST00000452276.6:c.957C>G	ENSP00000388671.2:p.Phe319Leu
ENST00000453906.6:c.407-5262C>G	ENSP00000403035.2:n.407-5262C>G
ENST00000520680.2:c.957C>G	ENSP00000428785.2:p.Phe319Leu
ENST00000521065.2:c.*674C>G	ENSP00000427947.2:n.*674C>G
ENST00000521517.6:c.957C>G	ENSP00000430740.2:p.Phe319Leu
ENST00000681998.1:c.799+214C>G	ENSP00000506773.1:n.799+214C>G
ENST00000682036.1:c.407-5262C>G	ENSP00000508390.1:n.407-5262C>G
ENST00000682577.1:c.887C>G	ENSP00000506963.1:n.887C>G
ENST00000682624.1:c.*531C>G	ENSP00000508343.1:n.*531C>G
ENST00000682700.1:c.957C>G	ENSP00000507627.1:p.Phe319Leu
ENST00000682744.1:n.495C>G
ENST00000682804.1:n.780C>G
ENST00000682837.1:c.624+214C>G	ENSP00000507920.1:n.624+214C>G
ENST00000682935.1:n.2517C>G
ENST00000682984.1:c.618C>G	ENSP00000507209.1:p.Phe206Leu
ENST00000683078.1:c.712C>G	ENSP00000506796.1:n.712C>G
ENST00000683223.1:c.710+214C>G	ENSP00000507685.1:n.710+214C>G
ENST00000683238.1:n.2338C>G
ENST00000683249.1:n.2554C>G
ENST00000683336.1:c.799+214C>G	ENSP00000507695.1:n.799+214C>G
ENST00000683362.1:c.618C>G	ENSP00000506985.1:p.Phe206Leu
ENST00000683850.1:n.880C>G
ENST00000683919.1:c.887C>G	ENSP00000507617.1:n.887C>G
ENST00000683953.1:c.868C>G	ENSP00000508375.1:n.868C>G
ENST00000684023.1:c.1091C>G	ENSP00000507461.1:n.1091C>G
ENST00000684064.1:c.648C>G	ENSP00000508192.1:p.Phe216Leu
ENST00000684089.1:n.2507C>G
ENST00000684149.1:c.*293C>G	ENSP00000507943.1:n.*293C>G
ENST00000684416.1:n.916C>G
ENST00000684540.1:c.887C>G	ENSP00000507987.1:n.887C>G
ENST00000453321.8:c.957C>G MANE Select	ENSP00000389998.3:p.Phe319Leu
ENST00000323130.7:c.927C>G	ENSP00000314488.3:p.Phe309Leu
ENST00000409623.7:c.714C>G	ENSP00000386966.3:p.Phe238Leu
ENST00000425545.2:n.404C>G
ENST00000452276.5:c.648C>G	ENSP00000388671.1:p.Phe216Leu
ENST00000453321.7:c.957C>G	ENSP00000389998.3:p.Phe319Leu
ENST00000453906.5:c.407-5262C>G	ENSP00000403035.1:n.407-5262C>G
ENST00000474944.5:n.427-5262C>G
ENST00000496213.5:n.422C>G
NM_001142301.1:c.714C>G , LRG_688t2:c.714C>G	NP_001135773.1:p.Phe238Leu
NM_153704.5:c.957C>G , LRG_688t1:c.957C>G	NP_714915.3:p.Phe319Leu
NR_024522.1:n.1028C>G
XM_006716686.2:c.654C>G	XP_006716749.1:p.Phe218Leu
XM_006716687.2:c.357C>G	XP_006716750.1:p.Phe119Leu
XM_011517363.1:c.407-5262C>G	XP_011515665.1:n.407-5262C>G
XR_428387.1:n.1015C>G
XR_928360.1:n.1015C>G
XR_928361.1:n.1015C>G
XR_928362.1:n.1015C>G
XM_006716686.4:c.654C>G	XP_006716749.1:p.Phe218Leu
XM_011517363.3:c.407-5262C>G	XP_011515665.1:n.407-5262C>G
XM_024447326.1:c.303C>G	XP_024303094.1:p.Phe101Leu
XR_001745619.2:n.998C>G
XR_428387.2:n.998C>G
XR_928360.3:n.998C>G
XR_928362.3:n.998C>G
NM_153704.6:c.957C>G MANE Select	NP_714915.3:p.Phe319Leu
NR_024522.2:n.978C>G