Canonical Allele Identifier: CA371687844

Gene: TMEM67

Linked Data

• COSMIC: COSM2791129 ; COSM2791130 ; COSM4368831
• MyVariant Identifiers: chr8:g.94792890T>C (hg19) ; chr8:g.93780662T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780662T>C , CM000670.2:g.93780662T>C	GRCh38
NC_000008.10:g.94792890T>C , CM000670.1:g.94792890T>C	GRCh37
NC_000008.9:g.94862066T>C	NCBI36
NG_009190.1:g.30819T>C , LRG_688:g.30819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.784T>C	ENSP00000314488.4:p.Phe262Leu
ENST00000409623.8:c.784T>C	ENSP00000386966.4:p.Phe262Leu
ENST00000452276.6:c.784T>C	ENSP00000388671.2:p.Phe262Leu
ENST00000453906.6:c.407-5561T>C	ENSP00000403035.2:n.407-5561T>C
ENST00000520680.2:c.784T>C	ENSP00000428785.2:p.Phe262Leu
ENST00000521065.2:c.*501T>C	ENSP00000427947.2:n.*501T>C
ENST00000521517.6:c.784T>C	ENSP00000430740.2:p.Phe262Leu
ENST00000681998.1:c.714T>C	ENSP00000506773.1:n.714T>C
ENST00000682036.1:c.407-5561T>C	ENSP00000508390.1:n.407-5561T>C
ENST00000682577.1:c.714T>C	ENSP00000506963.1:n.714T>C
ENST00000682624.1:c.*358T>C	ENSP00000508343.1:n.*358T>C
ENST00000682700.1:c.784T>C	ENSP00000507627.1:p.Phe262Leu
ENST00000682744.1:n.322T>C
ENST00000682804.1:n.607T>C
ENST00000682837.1:c.539T>C	ENSP00000507920.1:p.Leu180Pro
ENST00000682935.1:n.2344T>C
ENST00000682984.1:c.445T>C	ENSP00000507209.1:p.Phe149Leu
ENST00000683078.1:c.539T>C	ENSP00000506796.1:p.Leu180Pro
ENST00000683223.1:c.625T>C	ENSP00000507685.1:n.625T>C
ENST00000683238.1:n.2165T>C
ENST00000683249.1:n.2365T>C
ENST00000683336.1:c.714T>C	ENSP00000507695.1:n.714T>C
ENST00000683362.1:c.445T>C	ENSP00000506985.1:p.Phe149Leu
ENST00000683850.1:n.707T>C
ENST00000683919.1:c.714T>C	ENSP00000507617.1:n.714T>C
ENST00000683953.1:c.695T>C	ENSP00000508375.1:n.695T>C
ENST00000684023.1:c.918T>C	ENSP00000507461.1:n.918T>C
ENST00000684064.1:c.475T>C	ENSP00000508192.1:p.Phe159Leu
ENST00000684089.1:n.2334T>C
ENST00000684149.1:c.*120T>C	ENSP00000507943.1:n.*120T>C
ENST00000684416.1:n.743T>C
ENST00000684540.1:c.714T>C	ENSP00000507987.1:n.714T>C
ENST00000453321.8:c.784T>C MANE Select	ENSP00000389998.3:p.Phe262Leu
ENST00000323130.7:c.754T>C	ENSP00000314488.3:p.Phe252Leu
ENST00000409623.7:c.541T>C	ENSP00000386966.3:p.Phe181Leu
ENST00000425545.2:n.231T>C
ENST00000452276.5:c.475T>C	ENSP00000388671.1:p.Phe159Leu
ENST00000453321.7:c.784T>C	ENSP00000389998.3:p.Phe262Leu
ENST00000453906.5:c.407-5561T>C	ENSP00000403035.1:n.407-5561T>C
ENST00000474944.5:n.427-5561T>C
ENST00000496213.5:n.249T>C
NM_001142301.1:c.541T>C , LRG_688t2:c.541T>C	NP_001135773.1:p.Phe181Leu
NM_153704.5:c.784T>C , LRG_688t1:c.784T>C	NP_714915.3:p.Phe262Leu
NR_024522.1:n.855T>C
XM_006716686.2:c.481T>C	XP_006716749.1:p.Phe161Leu
XM_006716687.2:c.184T>C	XP_006716750.1:p.Phe62Leu
XM_011517363.1:c.407-5561T>C	XP_011515665.1:n.407-5561T>C
XR_428387.1:n.842T>C
XR_928360.1:n.842T>C
XR_928361.1:n.842T>C
XR_928362.1:n.842T>C
XM_006716686.4:c.481T>C	XP_006716749.1:p.Phe161Leu
XM_011517363.3:c.407-5561T>C	XP_011515665.1:n.407-5561T>C
XM_024447326.1:c.130T>C	XP_024303094.1:p.Phe44Leu
XR_001745619.2:n.825T>C
XR_428387.2:n.825T>C
XR_928360.3:n.825T>C
XR_928362.3:n.825T>C
NM_153704.6:c.784T>C MANE Select	NP_714915.3:p.Phe262Leu
NR_024522.2:n.805T>C